ALOXE3 (arachidonate lipoxygenase 3) - Rat Genome Database

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Gene: ALOXE3 (arachidonate lipoxygenase 3) Homo sapiens
Analyze
Symbol: ALOXE3
Name: arachidonate lipoxygenase 3
RGD ID: 1314765
HGNC Page HGNC
Description: Enables hepoxilin A3 synthase activity; intramolecular transferase activity, transferring hydroxy groups; and oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen. Involved in fatty acid metabolic process and sphingolipid metabolic process. Predicted to be located in cytosol. Implicated in autosomal recessive congenital ichthyosis 1 and autosomal recessive congenital ichthyosis 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARCI3; E-LOX; e-LOX-3; eLOX-3; eLOX3; epidermal lipoxygenase; Epidermal lipoxygenase-3; epidermal LOX-3; epidermis-type lipoxygenase 3; hydroperoxide isomerase ALOXE3; hydroperoxy dehydratase ALOXE3; hydroperoxy icosatetraenoate dehydratase; hydroperoxy icosatetraenoate isomerase; MGC119694; MGC119695; MGC119696
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ALOXE3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl178,095,900 - 8,119,047 (-)EnsemblGRCh38hg38GRCh38
GRCh38178,095,900 - 8,118,916 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,999,218 - 8,022,234 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,939,943 - 7,962,532 (-)NCBINCBI36hg18NCBI36
Build 34177,939,942 - 7,962,532NCBI
Celera178,026,859 - 8,049,862 (-)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,894,132 - 7,917,136 (-)NCBIHuRef
CHM1_1178,007,971 - 8,030,756 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:11350124   PMID:12477932   PMID:12881489   PMID:14702039   PMID:15489334   PMID:15629692   PMID:16344560   PMID:17045234   PMID:17139268   PMID:17436029   PMID:19064572   PMID:19131948  
PMID:19423540   PMID:19890349   PMID:20301593   PMID:20406964   PMID:20438785   PMID:20921226   PMID:20923767   PMID:21558561   PMID:21873635   PMID:22622417   PMID:23954555   PMID:24021977  
PMID:25423909   PMID:26186194   PMID:26578203   PMID:27868147   PMID:28514442   PMID:29509190   PMID:29935003   PMID:30678711   PMID:31883158   PMID:32296183  


Genomics

Comparative Map Data
ALOXE3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl178,095,900 - 8,119,047 (-)EnsemblGRCh38hg38GRCh38
GRCh38178,095,900 - 8,118,916 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,999,218 - 8,022,234 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,939,943 - 7,962,532 (-)NCBINCBI36hg18NCBI36
Build 34177,939,942 - 7,962,532NCBI
Celera178,026,859 - 8,049,862 (-)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,894,132 - 7,917,136 (-)NCBIHuRef
CHM1_1178,007,971 - 8,030,756 (-)NCBICHM1_1
Aloxe3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,016,243 - 69,039,941 (+)NCBIGRCm39mm39
GRCm39 Ensembl1169,016,722 - 69,039,941 (+)Ensembl
GRCm381169,125,417 - 69,149,115 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,125,896 - 69,149,115 (+)EnsemblGRCm38mm10GRCm38
MGSCv371168,939,879 - 68,962,617 (+)NCBIGRCm37mm9NCBIm37
MGSCv361168,942,572 - 68,965,309 (+)NCBImm8
Celera1176,069,912 - 76,093,792 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.38NCBI
Aloxe3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21053,830,219 - 53,854,328 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl1055,712,043 - 55,735,911 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01055,711,996 - 55,735,915 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01055,455,058 - 55,478,971 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41055,885,573 - 55,908,641 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11055,905,197 - 55,921,901 (+)NCBI
Celera1052,996,789 - 53,019,740 (+)NCBICelera
Cytogenetic Map10q24NCBI
Aloxe3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554678,844,805 - 8,869,964 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554678,844,805 - 8,869,230 (+)NCBIChiLan1.0ChiLan1.0
ALOXE3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11748,271,226 - 48,293,941 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1748,271,226 - 48,293,941 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01743,539,657 - 43,562,433 (+)NCBIMhudiblu_PPA_v0panPan3
ALOXE3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,917,681 - 32,941,470 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,918,065 - 32,941,752 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha533,053,928 - 33,077,702 (-)NCBI
ROS_Cfam_1.0533,020,545 - 33,044,337 (-)NCBI
UMICH_Zoey_3.1532,987,512 - 33,011,269 (-)NCBI
UNSW_CanFamBas_1.0532,943,286 - 32,967,078 (-)NCBI
UU_Cfam_GSD_1.0533,123,298 - 33,147,098 (-)NCBI
Aloxe3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,855,295 - 47,876,774 (-)NCBI
SpeTri2.0NW_0049365951,329,492 - 1,350,914 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALOXE3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1253,309,845 - 53,331,324 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11253,309,845 - 53,331,780 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21255,768,185 - 55,801,120 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALOXE3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1167,478,775 - 7,500,931 (-)NCBI
ChlSab1.1 Ensembl167,478,793 - 7,500,428 (-)Ensembl
Vero_WHO_p1.0NW_02366605913,904,095 - 13,926,227 (+)NCBI
Aloxe3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478610,666,255 - 10,689,204 (-)NCBI

Position Markers
ALOXE3_703.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,999,104 - 7,999,923UniSTSGRCh37
Build 36177,939,829 - 7,940,648RGDNCBI36
Celera178,026,745 - 8,027,564RGD
HuRef177,894,018 - 7,894,837UniSTS
humtgkql  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,023,431 - 8,023,777UniSTSGRCh37
Build 36177,964,156 - 7,964,502RGDNCBI36
Celera178,051,059 - 8,051,405RGD
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map17p13.1UniSTS
HuRef177,918,333 - 7,918,679UniSTS
GeneMap99-GB4 RH Map1747.49UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1451
Count of miRNA genes:524
Interacting mature miRNAs:570
Transcripts:ENST00000318227, ENST00000380149, ENST00000448843, ENST00000583808
Prediction methods:Miranda, Rnahybrid, Rnahybrid,Miranda, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 3 1 1 1286 1 7 4 25 10 1 1 694
Low 101 36 244 83 33 31 82 32 1729 42 663 186 60 11 13 1
Below cutoff 2080 2611 1161 294 1387 187 2645 1793 1881 218 700 1316 109 1113 1840 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001165960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC129492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF182218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ269499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ305025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA183156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC376381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318227   ⟹   ENSP00000314879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl178,096,375 - 8,119,047 (-)Ensembl
RefSeq Acc Id: ENST00000380149   ⟹   ENSP00000369494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl178,095,900 - 8,118,489 (-)Ensembl
RefSeq Acc Id: ENST00000448843   ⟹   ENSP00000400581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl178,095,901 - 8,118,513 (-)Ensembl
RefSeq Acc Id: ENST00000583808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl178,096,249 - 8,103,515 (-)Ensembl
RefSeq Acc Id: NM_001165960   ⟹   NP_001159432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,095,900 - 8,118,916 (-)NCBI
GRCh37177,999,218 - 8,022,365 (-)NCBI
HuRef177,894,132 - 7,917,136 (-)ENTREZGENE
CHM1_1178,007,971 - 8,030,756 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369446   ⟹   NP_001356375
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,095,900 - 8,118,303 (-)NCBI
RefSeq Acc Id: NM_021628   ⟹   NP_067641
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,095,900 - 8,118,514 (-)NCBI
GRCh37177,999,218 - 8,022,365 (-)NCBI
Build 36177,939,943 - 7,962,532 (-)NCBI Archive
HuRef177,894,132 - 7,917,136 (-)ENTREZGENE
CHM1_1178,007,971 - 8,030,382 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024921   ⟹   XP_016880410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,103,504 - 8,118,263 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024922   ⟹   XP_016880411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,103,504 - 8,118,263 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024923   ⟹   XP_016880412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,108,598 - 8,118,263 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024924   ⟹   XP_016880413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,108,502 - 8,118,263 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024925   ⟹   XP_016880414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,108,743 - 8,118,263 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001752579
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,095,900 - 8,118,263 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001752580
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,096,680 - 8,118,263 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001159432   ⟸   NM_001165960
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BYJ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_067641   ⟸   NM_021628
- Peptide Label: isoform 2
- UniProtKB: Q9BYJ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016880411   ⟸   XM_017024922
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016880410   ⟸   XM_017024921
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016880413   ⟸   XM_017024924
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016880412   ⟸   XM_017024923
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016880414   ⟸   XM_017024925
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001356375   ⟸   NM_001369446
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000369494   ⟸   ENST00000380149
RefSeq Acc Id: ENSP00000400581   ⟸   ENST00000448843
RefSeq Acc Id: ENSP00000314879   ⟸   ENST00000318227
Protein Domains
Lipoxygenase   PLAT

Promoters
RGD ID:6793736
Promoter ID:HG_KWN:24941
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:ENST00000318227,   NM_001165960,   NM_021628
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,962,721 - 7,963,772 (-)MPROMDB
RGD ID:7233887
Promoter ID:EPDNEW_H22688
Type:initiation region
Name:ALOXE3_2
Description:arachidonate lipoxygenase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22689  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,118,397 - 8,118,457EPDNEW
RGD ID:7233885
Promoter ID:EPDNEW_H22689
Type:initiation region
Name:ALOXE3_1
Description:arachidonate lipoxygenase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22688  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,118,514 - 8,118,574EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001165960.1(ALOXE3):c.1238G>T (p.Gly413Val) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000032746] Chr17:8111474 [GRCh38]
Chr17:8014792 [GRCh37]
Chr17:17p13.1
pathogenic
ALOXE3, PRO630LEU single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000032747] Chr17:17p13.1 pathogenic
NM_001165960.1(ALOXE3):c.830G>A (p.Arg277His) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000032748] Chr17:8115607 [GRCh38]
Chr17:8018925 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.1676T>C (p.Leu559Pro) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000032749] Chr17:8110117 [GRCh38]
Chr17:8013435 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.2026C>T (p.Gln676Ter) single nucleotide variant Lamellar ichthyosis [RCV001291298]|not provided [RCV000521467] Chr17:8108522 [GRCh38]
Chr17:8011840 [GRCh37]
Chr17:17p13.1
pathogenic|likely pathogenic
NM_001165960.1(ALOXE3):c.1894G>T (p.Val632Phe) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000003576] Chr17:8109238 [GRCh38]
Chr17:8012556 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.1096C>T (p.Arg366Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000003577]|not provided [RCV000401471] Chr17:8112177 [GRCh38]
Chr17:8015495 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.1582C>A (p.Arg528Ser) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000003578] Chr17:8110211 [GRCh38]
Chr17:8013529 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.1105T>A (p.Leu369Met) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000003579]|not provided [RCV000883523] Chr17:8112168 [GRCh38]
Chr17:8015486 [GRCh37]
Chr17:17p13.1
benign|uncertain significance
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:7750804-10112969)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|See cases [RCV000052460] Chr17:7750804..10112969 [GRCh38]
Chr17:7654122..10016286 [GRCh37]
Chr17:7594847..9957011 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.1027C>T (p.Arg343Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289484]|not provided [RCV000578895] Chr17:8114533 [GRCh38]
Chr17:8017851 [GRCh37]
Chr17:7958576 [NCBI36]
Chr17:17p13.1
pathogenic|not provided
NM_001165960.1(ALOXE3):c.730G>A (p.Glu244Lys) single nucleotide variant Malignant melanoma [RCV000063326] Chr17:8116794 [GRCh38]
Chr17:8020112 [GRCh37]
Chr17:7960837 [NCBI36]
Chr17:17p13.1
not provided
NM_001165960.1(ALOXE3):c.549G>A (p.Gln183=) single nucleotide variant Malignant melanoma [RCV000063327] Chr17:8116975 [GRCh38]
Chr17:8020293 [GRCh37]
Chr17:7961018 [NCBI36]
Chr17:17p13.1
not provided
NM_021628.3(ALOXE3):c.2041C>T (p.Gln681Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001292766] Chr17:8096722 [GRCh38]
Chr17:8000040 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.715C>T (p.Arg239Cys) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001331194] Chr17:8112162 [GRCh38]
Chr17:8015480 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 copy number gain See cases [RCV000141063] Chr17:7967712..8490279 [GRCh38]
Chr17:7871030..8393597 [GRCh37]
Chr17:7811755..8334322 [NCBI36]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
Single allele deletion Autosomal recessive congenital ichthyosis 3 [RCV000201250] Chr17:8017293..8022591 [GRCh38]
Chr17:7920611..7925909 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.814C>T (p.Arg272Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000201260]|Ichthyosis (disease) [RCV000755138] Chr17:8115623 [GRCh38]
Chr17:8018941 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.2285C>T (p.Pro762Leu) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000032747]|Autosomal recessive congenital ichthyosis [RCV000615069]|not provided [RCV000295913] Chr17:8103390 [GRCh38]
Chr17:8006708 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:8020196-8157327)x3 copy number gain Ductal breast carcinoma [RCV000207207] Chr17:8020196..8157327 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:8017865-8135384)x3 copy number gain Ductal breast carcinoma [RCV000207039] Chr17:8017865..8135384 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1788+17G>A single nucleotide variant not specified [RCV000249191] Chr17:8109899 [GRCh38]
Chr17:8013217 [GRCh37]
Chr17:17p13.1
benign
NM_001165960.1(ALOXE3):c.2181+17C>A single nucleotide variant not specified [RCV000253988] Chr17:8104098 [GRCh38]
Chr17:8007416 [GRCh37]
Chr17:17p13.1
benign
NM_001165960.1(ALOXE3):c.2520C>T (p.Ser840=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000384778]|not specified [RCV000245812] Chr17:8096639 [GRCh38]
Chr17:7999957 [GRCh37]
Chr17:17p13.1
benign
NM_001165960.1(ALOXE3):c.1181-14C>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000389526]|not specified [RCV000250541] Chr17:8111545 [GRCh38]
Chr17:8014863 [GRCh37]
Chr17:17p13.1
benign|uncertain significance
NM_001165960.1(ALOXE3):c.2428C>T (p.Arg810Cys) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000293208] Chr17:8096731 [GRCh38]
Chr17:8000049 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001165960.1(ALOXE3):c.*514T>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000296983] Chr17:8096113 [GRCh38]
Chr17:7999431 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.*392G>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000261827] Chr17:8096235 [GRCh38]
Chr17:7999553 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.2106A>G (p.Pro702=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000281457] Chr17:8104190 [GRCh38]
Chr17:8007508 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.*87C>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000270550] Chr17:8096540 [GRCh38]
Chr17:7999858 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.*466G>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000354342] Chr17:8096161 [GRCh38]
Chr17:7999479 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1503C>T (p.Ser501=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000367063] Chr17:8110290 [GRCh38]
Chr17:8013608 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1761G>A (p.Leu587=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000271242]|not provided [RCV000927982] Chr17:8109943 [GRCh38]
Chr17:8013261 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.1249G>A (p.Val417Ile) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000275330] Chr17:8111463 [GRCh38]
Chr17:8014781 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1899G>C (p.Leu633=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000363386]|not provided [RCV000963808] Chr17:8109233 [GRCh38]
Chr17:8012551 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.2160C>T (p.His720=) single nucleotide variant Congenital ichthyosiform erythroderma [RCV000396044] Chr17:8104136 [GRCh38]
Chr17:8007454 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.2092C>T (p.Arg698Trp) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000396050] Chr17:8104204 [GRCh38]
Chr17:8007522 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.93G>T (p.Gln31His) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000366075]|not specified [RCV000424706] Chr17:8118294 [GRCh38]
Chr17:8021612 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.*538G>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000397570] Chr17:8096089 [GRCh38]
Chr17:7999407 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1076+9A>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000317469] Chr17:8114475 [GRCh38]
Chr17:8017793 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001165960.1(ALOXE3):c.1939A>G (p.Ile647Val) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000306440] Chr17:8109193 [GRCh38]
Chr17:8012511 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001165960.1(ALOXE3):c.*24A>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000327845] Chr17:8096603 [GRCh38]
Chr17:7999921 [GRCh37]
Chr17:17p13.1
benign|uncertain significance
NM_001165960.1(ALOXE3):c.1046C>T (p.Thr349Met) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000374309] Chr17:8114514 [GRCh38]
Chr17:8017832 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.810G>A (p.Arg270=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000282228] Chr17:8115627 [GRCh38]
Chr17:8018945 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.*618T>C single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000350639] Chr17:8096009 [GRCh38]
Chr17:7999327 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.97C>G (p.Pro33Ala) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000309097] Chr17:8118290 [GRCh38]
Chr17:8021608 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001165960.1(ALOXE3):c.1951A>G (p.Ile651Val) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000401805]|not provided [RCV001486710] Chr17:8109181 [GRCh38]
Chr17:8012499 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.1701+15del deletion Congenital ichthyosiform erythroderma [RCV000328666] Chr17:8110077 [GRCh38]
Chr17:8013395 [GRCh37]
Chr17:17p13.1
benign
NM_001165960.1(ALOXE3):c.*111T>C single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000381371] Chr17:8096516 [GRCh38]
Chr17:7999834 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001165960.1(ALOXE3):c.1195C>T (p.His399Tyr) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000332683] Chr17:8111517 [GRCh38]
Chr17:8014835 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.2182-10G>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000335146]|not provided [RCV000966023] Chr17:8103503 [GRCh38]
Chr17:8006821 [GRCh37]
Chr17:17p13.1
benign|likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.298C>G (p.Arg100Gly) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000390588] Chr17:8118089 [GRCh38]
Chr17:8021407 [GRCh37]
Chr17:17p13.1
benign|likely benign
NM_001165960.1(ALOXE3):c.102T>C (p.Asp34=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000395138]|not provided [RCV000966456] Chr17:8118285 [GRCh38]
Chr17:8021603 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.2022G>A (p.Glu674=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000359800]|not provided [RCV000892800] Chr17:8108526 [GRCh38]
Chr17:8011844 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.*356A>C single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000359573] Chr17:8096271 [GRCh38]
Chr17:7999589 [GRCh37]
Chr17:17p13.1
benign
NM_001165960.1(ALOXE3):c.2267C>T (p.Thr756Ile) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000296791] Chr17:8103408 [GRCh38]
Chr17:8006726 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.*314T>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000267069] Chr17:8096313 [GRCh38]
Chr17:7999631 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.2102C>A (p.Thr701Asn) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000338824] Chr17:8104194 [GRCh38]
Chr17:8007512 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.618C>T (p.Tyr206=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000340570] Chr17:8116906 [GRCh38]
Chr17:8020224 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.*391C>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000302423] Chr17:8096236 [GRCh38]
Chr17:7999554 [GRCh37]
Chr17:17p13.1
benign|uncertain significance
NM_001165960.1(ALOXE3):c.2080+5C>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000302846] Chr17:8108463 [GRCh38]
Chr17:8011781 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.2415C>T (p.Ala805=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000350436]|not provided [RCV000952756] Chr17:8096744 [GRCh38]
Chr17:8000062 [GRCh37]
Chr17:17p13.1
benign|uncertain significance
NM_001165960.1(ALOXE3):c.2404C>T (p.Arg802Trp) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000388778]|not provided [RCV000903668] Chr17:8096755 [GRCh38]
Chr17:8000073 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_001165960.1(ALOXE3):c.83+187G>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000400338] Chr17:8118509 [GRCh38]
Chr17:8021827 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.*693G>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000347207] Chr17:8095934 [GRCh38]
Chr17:7999252 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.137G>A (p.Cys46Tyr) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000286796] Chr17:8118250 [GRCh38]
Chr17:8021568 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.*222C>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000324541] Chr17:8096405 [GRCh38]
Chr17:7999723 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.*641C>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000312094] Chr17:8095986 [GRCh38]
Chr17:7999304 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.131C>A (p.Thr44Asn) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000344153] Chr17:8118256 [GRCh38]
Chr17:8021574 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.*669T>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000397573] Chr17:8095958 [GRCh38]
Chr17:7999276 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.11:g.(?_7669603)_(8382316_?)del deletion Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188] Chr17:7669603..8382316 [GRCh38]
Chr17:7572921..8285634 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.8017293_8022591delinsC indel Ichthyosis (disease) [RCV000755139] Chr17:8113975..8119273 [GRCh38]
Chr17:8017293..8022591 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7966164-8338622)x3 copy number gain See cases [RCV000447606] Chr17:7966164..8338622 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 copy number loss See cases [RCV000445992] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.2182-2A>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289477]|not provided [RCV000423596] Chr17:8103495 [GRCh38]
Chr17:8006813 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7929776-9995862)x3 copy number gain See cases [RCV000447853] Chr17:7929776..9995862 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.2476G>C (p.Ala826Pro) single nucleotide variant not provided [RCV000484924] Chr17:8096683 [GRCh38]
Chr17:8000001 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1238G>A (p.Gly413Asp) single nucleotide variant not provided [RCV000498235] Chr17:8111474 [GRCh38]
Chr17:8014792 [GRCh37]
Chr17:17p13.1
likely pathogenic
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 copy number gain See cases [RCV000511388] Chr17:7431013..9868179 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1
drug response
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001165960.1(ALOXE3):c.1882C>T (p.Arg628Trp) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000761528] Chr17:8109250 [GRCh38]
Chr17:8012568 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1725C>A (p.Tyr575Ter) single nucleotide variant not provided [RCV000760700] Chr17:8109979 [GRCh38]
Chr17:8013297 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.432C>T (p.Pro144=) single nucleotide variant not provided [RCV000982405] Chr17:8117955 [GRCh38]
Chr17:8021273 [GRCh37]
Chr17:17p13.1
likely benign
NM_001165960.1(ALOXE3):c.711T>C (p.Ile237=) single nucleotide variant not provided [RCV000976044] Chr17:8116813 [GRCh38]
Chr17:8020131 [GRCh37]
Chr17:17p13.1
likely benign
NM_001165960.1(ALOXE3):c.1038C>T (p.Ala346=) single nucleotide variant not provided [RCV000970513] Chr17:8114522 [GRCh38]
Chr17:8017840 [GRCh37]
Chr17:17p13.1
benign
NM_001165960.1(ALOXE3):c.681T>C (p.Ser227=) single nucleotide variant not provided [RCV000880906] Chr17:8116843 [GRCh38]
Chr17:8020161 [GRCh37]
Chr17:17p13.1
likely benign
NM_001165960.1(ALOXE3):c.1076C>T (p.Ala359Val) single nucleotide variant not provided [RCV000996482] Chr17:8114484 [GRCh38]
Chr17:8017802 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1076+1G>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV000779239] Chr17:8114483 [GRCh38]
Chr17:8017801 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1497+10G>A single nucleotide variant not provided [RCV000903980] Chr17:8110375 [GRCh38]
Chr17:8013693 [GRCh37]
Chr17:17p13.1
likely benign
NM_001165960.1(ALOXE3):c.951-10C>T single nucleotide variant not provided [RCV000965368] Chr17:8114619 [GRCh38]
Chr17:8017937 [GRCh37]
Chr17:17p13.1
likely benign
NM_001165960.1(ALOXE3):c.1176G>T (p.Thr392=) single nucleotide variant not provided [RCV000923004] Chr17:8112097 [GRCh38]
Chr17:8015415 [GRCh37]
Chr17:17p13.1
benign
NM_001165960.1(ALOXE3):c.2461C>T (p.Arg821Trp) single nucleotide variant Autosomal recessive congenital ichthyosis 2 [RCV000782398] Chr17:8096698 [GRCh38]
Chr17:8000016 [GRCh37]
Chr17:17p13.1
likely pathogenic
GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3 copy number gain not provided [RCV000848522] Chr17:7676383..8350870 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.702T>A (p.Tyr234Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 2 [RCV000782395] Chr17:8116822 [GRCh38]
Chr17:8020140 [GRCh37]
Chr17:17p13.1
pathogenic
NM_001165960.1(ALOXE3):c.1230C>A (p.Tyr410Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 2 [RCV000782396] Chr17:8111482 [GRCh38]
Chr17:8014800 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.11:g.(?_7669599)_(8382320_?)del deletion Li-Fraumeni syndrome [RCV000803922] Chr17:7669599..8382320 [GRCh38]
Chr17:7572917..8285638 [GRCh37]
Chr17:17p13.1
pathogenic
GRCh37/hg19 17p13.1(chr17:7966164-8035595)x1 copy number loss not provided [RCV000846315] Chr17:7966164..8035595 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.1604A>G (p.His535Arg) single nucleotide variant Autosomal recessive congenital ichthyosis 2 [RCV000782397]|Autosomal recessive congenital ichthyosis 3 [RCV001289504] Chr17:8110189 [GRCh38]
Chr17:8013507 [GRCh37]
Chr17:17p13.1
pathogenic|likely pathogenic
NM_021628.3(ALOXE3):c.780G>A (p.Thr260=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001122020] Chr17:8112097 [GRCh38]
Chr17:8015415 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.*523A>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001127704] Chr17:8096104 [GRCh38]
Chr17:7999422 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.*481G>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001127705] Chr17:8096146 [GRCh38]
Chr17:7999464 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.1432A>C (p.Ser478Arg) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001127791] Chr17:8109304 [GRCh38]
Chr17:8012622 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.1101+9G>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001127793] Chr17:8110376 [GRCh38]
Chr17:8013694 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.*654C>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001125607] Chr17:8095973 [GRCh38]
Chr17:7999291 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.1598G>A (p.Ser533Asn) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001125694] Chr17:8108554 [GRCh38]
Chr17:8011872 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.*161C>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001123615] Chr17:8096466 [GRCh38]
Chr17:7999784 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.845C>A (p.Ala282Asp) single nucleotide variant not provided [RCV000966024] Chr17:8115043 [GRCh38]
Chr17:8018361 [GRCh37]
Chr17:17p13.1
likely benign
NM_001165960.1(ALOXE3):c.2510T>C (p.Ile837Thr) single nucleotide variant not provided [RCV000952755] Chr17:8096649 [GRCh38]
Chr17:7999967 [GRCh37]
Chr17:17p13.1
likely benign
NM_001165960.1(ALOXE3):c.1413A>G (p.Leu471=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001122018]|not provided [RCV000906628] Chr17:8110469 [GRCh38]
Chr17:8013787 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001249459] Chr17:8103325 [GRCh38]
Chr17:8006643 [GRCh37]
Chr17:17p13.1
pathogenic|not provided
NM_021628.3(ALOXE3):c.1252G>T (p.Ala418Ser) single nucleotide variant not provided [RCV001169851] Chr17:8110145 [GRCh38]
Chr17:8013463 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_021628.3(ALOXE3):c.555-14C>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001124780] Chr17:8114623 [GRCh38]
Chr17:8017941 [GRCh37]
Chr17:17p13.1
benign
NM_021628.3(ALOXE3):c.148-3C>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001125774] Chr17:8116983 [GRCh38]
Chr17:8020301 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_001165960.1(ALOXE3):c.2429G>A (p.Arg810His) single nucleotide variant not provided [RCV000935931] Chr17:8096730 [GRCh38]
Chr17:8000048 [GRCh37]
Chr17:17p13.1
likely benign
NM_001165960.1(ALOXE3):c.870C>T (p.Asp290=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001124781]|not provided [RCV000890519] Chr17:8115018 [GRCh38]
Chr17:8018336 [GRCh37]
Chr17:17p13.1
likely benign|uncertain significance
NM_021628.3(ALOXE3):c.1096del (p.Ile366fs) deletion not provided [RCV001008858] Chr17:8110390 [GRCh38]
Chr17:8013708 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.325T>C (p.Cys109Arg) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001124783] Chr17:8116803 [GRCh38]
Chr17:8020121 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.34C>T (p.Pro12Ser) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001125776] Chr17:8117957 [GRCh38]
Chr17:8021275 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.584C>T (p.Pro195Leu) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001124779] Chr17:8114580 [GRCh38]
Chr17:8017898 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.1635C>T (p.Ala545=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001125693] Chr17:8108517 [GRCh38]
Chr17:8011835 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable agammaglobulinemia [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.951G>A (p.Glu317=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001122019] Chr17:8111365 [GRCh38]
Chr17:8014683 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.1542G>A (p.Lys514=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001127789] Chr17:8109194 [GRCh38]
Chr17:8012512 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.1305+12C>G single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001127792] Chr17:8110080 [GRCh38]
Chr17:8013398 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7937691-8247776)x3 copy number gain not provided [RCV001006868] Chr17:7937691..8247776 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.412C>T (p.Arg138Trp) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001124782] Chr17:8115629 [GRCh38]
Chr17:8018947 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.-247G>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001125777] Chr17:8118237 [GRCh38]
Chr17:8021555 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.*262C>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001123614] Chr17:8096365 [GRCh38]
Chr17:7999683 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.1499T>G (p.Val500Gly) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001127790] Chr17:8109237 [GRCh38]
Chr17:8012555 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.*344C>T single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001123613] Chr17:8096283 [GRCh38]
Chr17:7999601 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.148-11G>C single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001125775] Chr17:8116991 [GRCh38]
Chr17:8020309 [GRCh37]
Chr17:17p13.1
benign
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.680+1G>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001262620] Chr17:8114483 [GRCh38]
Chr17:8017801 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1305+1_1305+2delinsTA indel Autosomal recessive congenital ichthyosis 3 [RCV001289485] Chr17:8110090..8110091 [GRCh38]
Chr17:8013408..8013409 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.952dup (p.Leu318fs) duplication Autosomal recessive congenital ichthyosis 3 [RCV001289487] Chr17:8111363..8111364 [GRCh38]
Chr17:8014681..8014682 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.3G>A (p.Met1Ile) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001335100] Chr17:8117988 [GRCh38]
Chr17:8021306 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.327C>A (p.Cys109Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289480] Chr17:8116801 [GRCh38]
Chr17:8020119 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.353-1G>C single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289483] Chr17:8115689 [GRCh38]
Chr17:8019007 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289497] Chr17:8110455 [GRCh38]
Chr17:8013773 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1246T>C (p.Cys416Arg) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289501] Chr17:8110151 [GRCh38]
Chr17:8013469 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.758del (p.Phe253fs) deletion Autosomal recessive congenital ichthyosis 3 [RCV001289478] Chr17:8112119 [GRCh38]
Chr17:8015437 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer) deletion Autosomal recessive congenital ichthyosis 3 [RCV001289486] Chr17:8117950..8117953 [GRCh38]
Chr17:8021268..8021271 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.271G>T (p.Glu91Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289491] Chr17:8116857 [GRCh38]
Chr17:8020175 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.2:c.435-?_554+?del deletion Autosomal recessive congenital ichthyosis 3 [RCV001289505]   pathogenic
NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289490] Chr17:8103467 [GRCh38]
Chr17:8006785 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1292dup (p.His431fs) duplication Autosomal recessive congenital ichthyosis 3 [RCV001289494] Chr17:8110104..8110105 [GRCh38]
Chr17:8013422..8013423 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1031_1039del (p.Gln344_Ala347delinsPro) deletion Autosomal recessive congenital ichthyosis 3 [RCV001289495] Chr17:8110447..8110455 [GRCh38]
Chr17:8013765..8013773 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1393-1G>A single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289499] Chr17:8109344 [GRCh38]
Chr17:8012662 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1202T>A (p.Leu401Gln) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289503] Chr17:8110195 [GRCh38]
Chr17:8013513 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289489] Chr17:8115644 [GRCh38]
Chr17:8018962 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1786-63_1807del deletion Autosomal recessive congenital ichthyosis 3 [RCV001289482] Chr17:8103472..8103556 [GRCh38]
Chr17:8006790..8006874 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.833A>G (p.Tyr278Cys) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289493] Chr17:8111483 [GRCh38]
Chr17:8014801 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.923T>C (p.Leu308Pro) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289496] Chr17:8111393 [GRCh38]
Chr17:8014711 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.308A>C (p.Gln103Pro) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289500] Chr17:8116820 [GRCh38]
Chr17:8020138 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1164G>T (p.Trp388Cys) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289502] Chr17:8110233 [GRCh38]
Chr17:8013551 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.57_63del (p.Asp20fs) deletion Autosomal recessive congenital ichthyosis 3 [RCV001289488] Chr17:8117928..8117934 [GRCh38]
Chr17:8021246..8021252 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1061G>A (p.Trp354Ter) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289492] Chr17:8110425 [GRCh38]
Chr17:8013743 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1937_1944del (p.Ser646fs) deletion Autosomal recessive congenital ichthyosis 3 [RCV001289498] Chr17:8103335..8103342 [GRCh38]
Chr17:8006653..8006660 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1392+2T>A single nucleotide variant not provided [RCV001311114] Chr17:8109914 [GRCh38]
Chr17:8013232 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_021628.3(ALOXE3):c.1193C>T (p.Ser398Phe) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289476] Chr17:8110204 [GRCh38]
Chr17:8013522 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.957G>A (p.Glu319=) single nucleotide variant Autosomal recessive congenital ichthyosis 3 [RCV001289479] Chr17:8111359 [GRCh38]
Chr17:8014677 [GRCh37]
Chr17:17p13.1
pathogenic
NM_021628.3(ALOXE3):c.1803_1804dup (p.Met602fs) duplication Autosomal recessive congenital ichthyosis 3 [RCV001289481] Chr17:8103474..8103475 [GRCh38]
Chr17:8006792..8006793 [GRCh37]
Chr17:17p13.1
pathogenic
NC_000017.10:g.(?_7846709)_(8000124_?)dup duplication Cone-rod dystrophy 6 [RCV001338055] Chr17:7846709..8000124 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_021628.3(ALOXE3):c.365G>T (p.Cys122Phe) single nucleotide variant not provided [RCV001457767] Chr17:8115676 [GRCh38]
Chr17:8018994 [GRCh37]
Chr17:17p13.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13743 AgrOrtholog
COSMIC ALOXE3 COSMIC
Ensembl Genes ENSG00000179148 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000314879 UniProtKB/Swiss-Prot
  ENSP00000369494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000400581 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000318227 UniProtKB/Swiss-Prot
  ENST00000380149 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000448843 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000179148 GTEx
HGNC ID HGNC:13743 ENTREZGENE
Human Proteome Map ALOXE3 Human Proteome Map
InterPro LipOase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_Fe_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LipOase_mml UniProtKB/Swiss-Prot
  PLAT/LH2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT_LOX_verte UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:59344 UniProtKB/Swiss-Prot
NCBI Gene 59344 ENTREZGENE
OMIM 606545 OMIM
  607206 OMIM
PANTHER PTHR11771 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipoxygenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24727 PharmGKB
PRINTS LIPOXYGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAMLPOXGNASE UniProtKB/Swiss-Prot
PROSITE LIPOXYGENASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOXYGENASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOXYGENASE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48484 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49723 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt J3KPH2_HUMAN UniProtKB/TrEMBL
  LOXE3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R981 UniProtKB/Swiss-Prot
  B7Z3W0 UniProtKB/Swiss-Prot
  Q3ZB74 UniProtKB/Swiss-Prot
  Q9H4F2 UniProtKB/Swiss-Prot
  Q9HC22 UniProtKB/Swiss-Prot