ALDH6A1 (aldehyde dehydrogenase 6 family member A1) - Rat Genome Database

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Gene: ALDH6A1 (aldehyde dehydrogenase 6 family member A1) Homo sapiens
Analyze
Symbol: ALDH6A1
Name: aldehyde dehydrogenase 6 family member A1
RGD ID: 1344188
HGNC Page HGNC
Description: Exhibits methylmalonate-semialdehyde dehydrogenase (acylating) activity. Involved in thymine catabolic process and valine catabolic process. Localizes to mitochondrion and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: aldehyde dehydrogenase 6 family, member A1; aldehyde dehydrogenase family 6 member A1; malonate-semialdehyde dehydrogenase; malonate-semialdehyde dehydrogenase (acetylating); methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; MGC40271; mitochondrial acylating methylmalonate-semialdehyde dehydrogenase; MMSADHA; MMSDH; testicular tissue protein Li 122
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1474,056,847 - 74,084,492 (-)EnsemblGRCh38hg38GRCh38
GRCh381474,056,847 - 74,084,453 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371474,523,550 - 74,551,156 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361473,596,622 - 73,620,949 (-)NCBINCBI36hg18NCBI36
Build 341473,596,625 - 73,620,949NCBI
Celera1454,563,821 - 54,588,152 (-)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1454,691,070 - 54,717,914 (-)NCBIHuRef
CHM1_11474,463,827 - 74,490,670 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3-chloropropane-1,2-diol  (ISO)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
antimony(0)  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
Brodifacoum  (ISO)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
carbon nanotube  (EXP,ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diuron  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenofibrate  (EXP)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gemcitabine  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (ISO)
Heliotrine  (EXP)
hydrogen peroxide  (EXP)
menadione  (EXP)
mercury atom  (EXP)
mercury dichloride  (EXP)
mercury(0)  (EXP)
methapyrilene  (ISO)
methylisothiazolinone  (EXP)
motexafin gadolinium  (EXP)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phlorizin  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
quercetin  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
silicon dioxide  (EXP)
sodium dichromate  (ISO)
sulindac  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thimerosal  (EXP)
titanium dioxide  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc acetate  (EXP)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

Additional References at PubMed
PMID:8125298   PMID:10947204   PMID:12477932   PMID:14718574   PMID:15489334   PMID:15909363   PMID:18029348   PMID:19343046   PMID:20379614   PMID:20585627   PMID:20877624   PMID:21863277  
PMID:21873635   PMID:21988832   PMID:22658674   PMID:23376485   PMID:23835272   PMID:24344204   PMID:25099943   PMID:26186194   PMID:26344197   PMID:27432908   PMID:28302793   PMID:28514442  
PMID:29509190   PMID:29987050   PMID:30396985   PMID:31056398   PMID:32457219  


Genomics

Comparative Map Data
ALDH6A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1474,056,847 - 74,084,492 (-)EnsemblGRCh38hg38GRCh38
GRCh381474,056,847 - 74,084,453 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371474,523,550 - 74,551,156 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361473,596,622 - 73,620,949 (-)NCBINCBI36hg18NCBI36
Build 341473,596,625 - 73,620,949NCBI
Celera1454,563,821 - 54,588,152 (-)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1454,691,070 - 54,717,914 (-)NCBIHuRef
CHM1_11474,463,827 - 74,490,670 (-)NCBICHM1_1
Aldh6a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391284,477,491 - 84,497,798 (-)NCBIGRCm39mm39
GRCm39 Ensembl1284,477,491 - 84,497,778 (-)Ensembl
GRCm381284,430,717 - 84,451,024 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1284,430,717 - 84,451,004 (-)EnsemblGRCm38mm10GRCm38
MGSCv371285,771,667 - 85,791,900 (-)NCBIGRCm37mm9NCBIm37
MGSCv361285,320,465 - 85,340,698 (-)NCBImm8
Celera1285,886,230 - 85,906,463 (-)NCBICelera
Cytogenetic Map12D1NCBI
cM Map1239.21NCBI
Aldh6a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26104,077,975 - 104,098,636 (-)NCBI
Rnor_6.0 Ensembl6108,146,582 - 108,167,185 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.06108,146,552 - 108,167,185 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06117,379,212 - 117,399,845 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46108,495,781 - 108,516,414 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16108,500,592 - 108,736,789 (-)NCBI
Celera6101,905,993 - 101,926,661 (-)NCBICelera
Cytogenetic Map6q31NCBI
Aldh6a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555231,343,545 - 1,369,073 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555231,343,545 - 1,369,080 (+)NCBIChiLan1.0ChiLan1.0
ALDH6A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11473,472,248 - 73,495,734 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1473,472,255 - 73,495,734 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01454,616,531 - 54,643,346 (-)NCBIMhudiblu_PPA_v0panPan3
ALDH6A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1847,280,872 - 47,304,460 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl847,282,235 - 47,304,283 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha846,965,176 - 46,988,785 (-)NCBI
ROS_Cfam_1.0847,508,633 - 47,532,183 (-)NCBI
UMICH_Zoey_3.1847,177,814 - 47,201,402 (-)NCBI
UNSW_CanFamBas_1.0847,195,555 - 47,219,148 (-)NCBI
UU_Cfam_GSD_1.0847,586,417 - 47,609,987 (-)NCBI
Aldh6a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864028,728,491 - 28,749,256 (+)NCBI
SpeTri2.0NW_0049364883,320,357 - 3,340,463 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALDH6A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl797,357,952 - 97,381,841 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1797,360,583 - 97,381,885 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27103,115,079 - 103,136,362 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALDH6A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12451,273,257 - 51,296,661 (-)NCBI
ChlSab1.1 Ensembl2451,269,272 - 51,288,826 (-)Ensembl
Aldh6a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473427,499,376 - 27,525,783 (+)NCBI

Position Markers
STS-R00273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,526,895 - 74,527,019UniSTSGRCh37
Build 361473,596,648 - 73,596,772RGDNCBI36
Celera1454,563,847 - 54,563,971RGD
Cytogenetic Map14q24.3UniSTS
HuRef1454,693,601 - 54,693,725UniSTS
GeneMap99-GB4 RH Map14193.96UniSTS
RH92479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,532,508 - 74,532,643UniSTSGRCh37
Build 361473,602,261 - 73,602,396RGDNCBI36
Celera1454,569,460 - 54,569,595RGD
Cytogenetic Map14q24.3UniSTS
HuRef1454,699,249 - 54,699,384UniSTS
GeneMap99-GB4 RH Map14194.16UniSTS
RH69632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,526,522 - 74,526,724UniSTSGRCh37
Build 361473,596,275 - 73,596,477RGDNCBI36
Celera1454,563,474 - 54,563,676RGD
Cytogenetic Map14q24.3UniSTS
ALDH6A1_3184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,526,673 - 74,527,400UniSTSGRCh37
Build 361473,596,426 - 73,597,153RGDNCBI36
Celera1454,563,625 - 54,564,352RGD
HuRef1454,693,379 - 54,694,106UniSTS
SHGC-54582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,527,084 - 74,527,260UniSTSGRCh37
Build 361473,596,837 - 73,597,013RGDNCBI36
Celera1454,564,036 - 54,564,212RGD
Cytogenetic Map14q24.3UniSTS
HuRef1454,693,790 - 54,693,966UniSTS
TNG Radiation Hybrid Map1426677.0UniSTS
RH98826  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24.3UniSTS
GeneMap99-GB4 RH Map14193.86UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR320Ehsa-miR-320eMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:2290
Count of miRNA genes:1016
Interacting mature miRNAs:1205
Transcripts:ENST00000350259, ENST00000553458, ENST00000553814, ENST00000554231, ENST00000554501, ENST00000555126, ENST00000556852
Prediction methods:Microtar, Miranda, Rnahybrid, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1748 1527 1384 534 612 439 2846 1397 3493 332 1247 1114 103 1 996 1894 5 2
Low 691 1325 342 90 1210 26 1511 790 241 86 213 499 71 208 894 1
Below cutoff 139 129 10 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF148505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF148855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF159889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI244036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ249994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW418653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M93405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000350259   ⟹   ENSP00000342564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,060,395 - 74,084,447 (-)Ensembl
RefSeq Acc Id: ENST00000553458   ⟹   ENSP00000450436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,056,847 - 74,084,453 (-)Ensembl
RefSeq Acc Id: ENST00000553814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,071,368 - 74,084,420 (-)Ensembl
RefSeq Acc Id: ENST00000554231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,070,700 - 74,084,492 (-)Ensembl
RefSeq Acc Id: ENST00000554501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,060,247 - 74,084,449 (-)Ensembl
RefSeq Acc Id: ENST00000555126   ⟹   ENSP00000452081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,060,415 - 74,069,258 (-)Ensembl
RefSeq Acc Id: ENST00000556852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1474,071,878 - 74,084,447 (-)Ensembl
RefSeq Acc Id: NM_001278593   ⟹   NP_001265522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,056,847 - 74,084,453 (-)NCBI
GRCh371474,524,365 - 74,551,196 (-)NCBI
HuRef1454,691,070 - 54,717,914 (-)NCBI
CHM1_11474,463,827 - 74,490,670 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278594   ⟹   NP_001265523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,056,847 - 74,084,453 (-)NCBI
GRCh371474,524,365 - 74,551,196 (-)NCBI
HuRef1454,691,070 - 54,717,914 (-)NCBI
CHM1_11474,463,827 - 74,490,670 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005589   ⟹   NP_005580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,056,847 - 74,084,453 (-)NCBI
GRCh371474,524,365 - 74,551,196 (-)NCBI
Build 361473,596,622 - 73,620,949 (-)NCBI Archive
Celera1454,563,821 - 54,588,152 (-)RGD
HuRef1454,691,070 - 54,717,914 (-)NCBI
CHM1_11474,463,827 - 74,490,670 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021331   ⟹   XP_016876820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,060,159 - 74,072,600 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005580   ⟸   NM_005589
- Peptide Label: isoform 1 precursor
- UniProtKB: Q02252 (UniProtKB/Swiss-Prot),   A0A024R6G4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265522   ⟸   NM_001278593
- Peptide Label: isoform 2 precursor
- UniProtKB: Q02252 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265523   ⟸   NM_001278594
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_016876820   ⟸   XM_017021331
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000452081   ⟸   ENST00000555126
RefSeq Acc Id: ENSP00000342564   ⟸   ENST00000350259
RefSeq Acc Id: ENSP00000450436   ⟸   ENST00000553458
Protein Domains
Aldedh

Promoters
RGD ID:6791739
Promoter ID:HG_KWN:19774
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005589,   UC001XPP.1,   UC010ASA.1,   UC010ASB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361473,620,791 - 73,622,522 (+)MPROMDB
RGD ID:6852124
Promoter ID:EP73868
Type:initiation region
Name:HS_ALDH6A1
Description:Aldehyde dehydrogenase 6 family, member A1 , nuclear gene encodingmitochondrial protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361473,620,876 - 73,620,936EPD
RGD ID:7228127
Promoter ID:EPDNEW_H19809
Type:initiation region
Name:ALDH6A1_1
Description:aldehyde dehydrogenase 6 family member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,084,418 - 74,084,478EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005589.4(ALDH6A1):c.1336G>A (p.Gly446Arg) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000006996] Chr14:74065249 [GRCh38]
Chr14:74531952 [GRCh37]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) deletion Intellectual disability, mild [RCV000190520] Chr14:73152115..77698582 [GRCh37]
Chr14:14q24.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1
pathogenic|likely pathogenic
NM_005589.4(ALDH6A1):c.1306del (p.Gln436fs) deletion not provided [RCV000513697] Chr14:74065279 [GRCh38]
Chr14:74531982 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_005589.4(ALDH6A1):c.785C>A (p.Ser262Tyr) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000190332] Chr14:74068927 [GRCh38]
Chr14:74535630 [GRCh37]
Chr14:14q24.3
pathogenic
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000190334] Chr14:74060647 [GRCh38]
Chr14:74527350 [GRCh37]
Chr14:14q24.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005589.4(ALDH6A1):c.514T>C (p.Tyr172His) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000190335] Chr14:74071411 [GRCh38]
Chr14:74538114 [GRCh37]
Chr14:14q24.3
pathogenic
NM_005589.4(ALDH6A1):c.184C>T (p.Pro62Ser) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000190333] Chr14:74072539 [GRCh38]
Chr14:74539242 [GRCh37]
Chr14:14q24.3
pathogenic
NM_005589.4(ALDH6A1):c.*309G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000264695] Chr14:74060333 [GRCh38]
Chr14:74527036 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_005589.4(ALDH6A1):c.799G>A (p.Glu267Lys) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000396779] Chr14:74068913 [GRCh38]
Chr14:74535616 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.731-12T>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000303616] Chr14:74068993 [GRCh38]
Chr14:74535696 [GRCh37]
Chr14:14q24.3
benign|uncertain significance
NM_005589.4(ALDH6A1):c.*142C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000270739] Chr14:74060500 [GRCh38]
Chr14:74527203 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*43C>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000325897] Chr14:74060599 [GRCh38]
Chr14:74527302 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.414A>G (p.Val138=) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000306965]|not provided [RCV000972172] Chr14:74071909 [GRCh38]
Chr14:74538612 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_005589.4(ALDH6A1):c.112-31GTTT[5] microsatellite Methylmalonate semialdehyde dehydrogenase deficiency [RCV000275352] Chr14:74072619..74072622 [GRCh38]
Chr14:74539322..74539325 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.1400G>A (p.Gly467Glu) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000294482] Chr14:74065185 [GRCh38]
Chr14:74531888 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*403T>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000300030] Chr14:74060239 [GRCh38]
Chr14:74526942 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.908A>G (p.Asn303Ser) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000281419] Chr14:74067514 [GRCh38]
Chr14:74534217 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.112-31GTTT[7] microsatellite Methylmalonate semialdehyde dehydrogenase deficiency [RCV000367599]|not provided [RCV000957680] Chr14:74072618..74072619 [GRCh38]
Chr14:74539321..74539322 [GRCh37]
Chr14:14q24.3
benign|uncertain significance
NM_005589.4(ALDH6A1):c.189C>T (p.Ala63=) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000271642] Chr14:74072362 [GRCh38]
Chr14:74539065 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*234C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000324573] Chr14:74060408 [GRCh38]
Chr14:74527111 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.1221C>G (p.Val407=) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000396819] Chr14:74066708 [GRCh38]
Chr14:74533411 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.186+6C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000328996] Chr14:74072531 [GRCh38]
Chr14:74539234 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*403T>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000400425] Chr14:74060239 [GRCh38]
Chr14:74526942 [GRCh37]
Chr14:14q24.3
benign|uncertain significance
NM_005589.4(ALDH6A1):c.636G>A (p.Glu212=) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000400916]|not provided [RCV000957228] Chr14:74071289 [GRCh38]
Chr14:74537992 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_005589.4(ALDH6A1):c.853-11dup duplication Methylmalonate semialdehyde dehydrogenase deficiency [RCV000338849]|not provided [RCV000962327] Chr14:74067571..74067572 [GRCh38]
Chr14:74534274..74534275 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_005589.4(ALDH6A1):c.1551_1553AGA[2] (p.Glu519del) microsatellite Methylmalonate semialdehyde dehydrogenase deficiency [RCV000331821] Chr14:74060691..74060693 [GRCh38]
Chr14:74527394..74527396 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*433C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000353685] Chr14:74060209 [GRCh38]
Chr14:74526912 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.112-11G>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000332662] Chr14:74072622 [GRCh38]
Chr14:74539325 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.1397T>C (p.Val466Ala) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000335400] Chr14:74065188 [GRCh38]
Chr14:74531891 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.-59A>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000278357] Chr14:74084453 [GRCh38]
Chr14:74551156 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*155T>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000360754] Chr14:74060487 [GRCh38]
Chr14:74527190 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.1604G>A (p.Arg535His) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000385071]|not provided [RCV000884579] Chr14:74060646 [GRCh38]
Chr14:74527349 [GRCh37]
Chr14:14q24.3
benign|uncertain significance
NM_005589.4(ALDH6A1):c.730+13A>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000360831] Chr14:74071182 [GRCh38]
Chr14:74537885 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.349-13G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000364009] Chr14:74071987 [GRCh38]
Chr14:74538690 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.1479A>G (p.Gly493=) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000386378] Chr14:74064846 [GRCh38]
Chr14:74531549 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.112-14T>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000389568] Chr14:74072625 [GRCh38]
Chr14:74539328 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000626131] Chr14:74066773 [GRCh38]
Chr14:74533476 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_005589.4(ALDH6A1):c.*377C>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000359468] Chr14:74060265 [GRCh38]
Chr14:74526968 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NM_005589.4(ALDH6A1):c.208C>T (p.Arg70Trp) single nucleotide variant not provided [RCV000658698] Chr14:74072343 [GRCh38]
Chr14:74539046 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3 copy number gain not provided [RCV000683615] Chr14:74219440..74883692 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_005589.4(ALDH6A1):c.*642C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116262] Chr14:74060000 [GRCh38]
Chr14:74526703 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.186+7G>A single nucleotide variant not provided [RCV000881541] Chr14:74072530 [GRCh38]
Chr14:74539233 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.997C>T (p.Leu333=) single nucleotide variant not provided [RCV000923996] Chr14:74067425 [GRCh38]
Chr14:74534128 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.755C>T (p.Pro252Leu) single nucleotide variant not provided [RCV000958686] Chr14:74068957 [GRCh38]
Chr14:74535660 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity
NM_005589.4(ALDH6A1):c.1455C>T (p.Thr485=) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119274]|not provided [RCV000883399] Chr14:74064870 [GRCh38]
Chr14:74531573 [GRCh37]
Chr14:14q24.3
benign
GRCh37/hg19 14q24.3(chr14:74040231-76368547) copy number loss not provided [RCV000767572] Chr14:74040231..76368547 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_005589.4(ALDH6A1):c.874_877dup (p.Met293fs) duplication Methylmalonate semialdehyde dehydrogenase deficiency [RCV000778408] Chr14:74067544..74067545 [GRCh38]
Chr14:74534247..74534248 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.112-1G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000778409] Chr14:74072612 [GRCh38]
Chr14:74539315 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.80G>A (p.Trp27Ter) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV000778410] Chr14:74074986 [GRCh38]
Chr14:74541689 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.112-7T>G single nucleotide variant not provided [RCV000920767] Chr14:74072618 [GRCh38]
Chr14:74539321 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.852+7T>C single nucleotide variant not provided [RCV000893442] Chr14:74068853 [GRCh38]
Chr14:74535556 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.97T>A (p.Phe33Ile) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121375]|not provided [RCV000978448] Chr14:74074969 [GRCh38]
Chr14:74541672 [GRCh37]
Chr14:14q24.3
likely benign
NC_000014.8:g.(?_74111723)_(74727642_?)dup duplication Ciliary dyskinesia, primary, 16 [RCV000812680] Chr14:73645020..74260939 [GRCh38]
Chr14:74111723..74727642 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1655C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117592] Chr14:74058987 [GRCh38]
Chr14:74525690 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1602G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117594] Chr14:74059040 [GRCh38]
Chr14:74525743 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.194A>G (p.Asn65Ser) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119381]|not provided [RCV001092313] Chr14:74072357 [GRCh38]
Chr14:74539060 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1887A>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117589] Chr14:74058755 [GRCh38]
Chr14:74525458 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1759C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117591] Chr14:74058883 [GRCh38]
Chr14:74525586 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1601C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117595] Chr14:74059041 [GRCh38]
Chr14:74525744 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.748G>T (p.Asp250Tyr) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116362] Chr14:74068964 [GRCh38]
Chr14:74535667 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*97T>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119273] Chr14:74060545 [GRCh38]
Chr14:74527248 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1386A>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119188] Chr14:74059256 [GRCh38]
Chr14:74525959 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*2361G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116150] Chr14:74058281 [GRCh38]
Chr14:74524984 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*2261T>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116153] Chr14:74058381 [GRCh38]
Chr14:74525084 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1934T>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116157] Chr14:74058708 [GRCh38]
Chr14:74525411 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*567C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116264] Chr14:74060075 [GRCh38]
Chr14:74526778 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.*494A>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116266] Chr14:74060148 [GRCh38]
Chr14:74526851 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.411T>C (p.Asp137=) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117812] Chr14:74071912 [GRCh38]
Chr14:74538615 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1820G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117590] Chr14:74058822 [GRCh38]
Chr14:74525525 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.*1534G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119185] Chr14:74059108 [GRCh38]
Chr14:74525811 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.235A>G (p.Met79Val) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119380] Chr14:74072316 [GRCh38]
Chr14:74539019 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1015C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121185] Chr14:74059627 [GRCh38]
Chr14:74526330 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*1006C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121187] Chr14:74059636 [GRCh38]
Chr14:74526339 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*1904G>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117588] Chr14:74058738 [GRCh38]
Chr14:74525441 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.*1623C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117593] Chr14:74059019 [GRCh38]
Chr14:74525722 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*2157C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116154] Chr14:74058485 [GRCh38]
Chr14:74525188 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*980A>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116260] Chr14:74059662 [GRCh38]
Chr14:74526365 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*1427A>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119187] Chr14:74059215 [GRCh38]
Chr14:74525918 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.1323C>T (p.Asn441=) single nucleotide variant not provided [RCV000931687] Chr14:74065262 [GRCh38]
Chr14:74531965 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.450T>C (p.Ser150=) single nucleotide variant not provided [RCV000894568] Chr14:74071475 [GRCh38]
Chr14:74538178 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.*1963C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116155] Chr14:74058679 [GRCh38]
Chr14:74525382 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*558A>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116265] Chr14:74060084 [GRCh38]
Chr14:74526787 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.759C>T (p.Asp253=) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116361] Chr14:74068953 [GRCh38]
Chr14:74535656 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*2816T>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121060] Chr14:74057826 [GRCh38]
Chr14:74524529 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*2517T>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121063] Chr14:74058125 [GRCh38]
Chr14:74524828 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*2491G>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121064] Chr14:74058151 [GRCh38]
Chr14:74524854 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.*1050C>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121182] Chr14:74059592 [GRCh38]
Chr14:74526295 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.112-11_112-10del deletion not provided [RCV000891028] Chr14:74072621..74072622 [GRCh38]
Chr14:74539324..74539325 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.112-10dup duplication not provided [RCV000890517] Chr14:74072614..74072615 [GRCh38]
Chr14:74539317..74539318 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.921G>A (p.Gly307=) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121277] Chr14:74067501 [GRCh38]
Chr14:74534204 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1367A>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119189] Chr14:74059275 [GRCh38]
Chr14:74525978 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1157G>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119192] Chr14:74059485 [GRCh38]
Chr14:74526188 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.-7G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121376] Chr14:74084401 [GRCh38]
Chr14:74551104 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*991G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121188] Chr14:74059651 [GRCh38]
Chr14:74526354 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*2994A>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121058] Chr14:74057648 [GRCh38]
Chr14:74524351 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*2861C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121059] Chr14:74057781 [GRCh38]
Chr14:74524484 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1514A>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119186] Chr14:74059128 [GRCh38]
Chr14:74525831 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*1181G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119191] Chr14:74059461 [GRCh38]
Chr14:74526164 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.151T>C (p.Ser51Pro) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119382] Chr14:74072572 [GRCh38]
Chr14:74539275 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*2422C>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121065] Chr14:74058220 [GRCh38]
Chr14:74524923 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1148C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121181] Chr14:74059494 [GRCh38]
Chr14:74526197 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*1032C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121183] Chr14:74059610 [GRCh38]
Chr14:74526313 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*1011C>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121186] Chr14:74059631 [GRCh38]
Chr14:74526334 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.112-15G>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121374] Chr14:74072626 [GRCh38]
Chr14:74539329 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*2298G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116152] Chr14:74058344 [GRCh38]
Chr14:74525047 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.*1938A>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116156] Chr14:74058704 [GRCh38]
Chr14:74525407 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*599C>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116263] Chr14:74060043 [GRCh38]
Chr14:74526746 [GRCh37]
Chr14:14q24.3
likely benign
NM_005589.4(ALDH6A1):c.*2680A>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121062] Chr14:74057962 [GRCh38]
Chr14:74524665 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.856G>T (p.Ala286Ser) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121278] Chr14:74067566 [GRCh38]
Chr14:74534269 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.646G>A (p.Gly216Arg) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001117811] Chr14:74071279 [GRCh38]
Chr14:74537982 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1208C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119190] Chr14:74059434 [GRCh38]
Chr14:74526137 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.145G>A (p.Val49Ile) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001119383] Chr14:74072578 [GRCh38]
Chr14:74539281 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.1261C>T (p.Pro421Ser) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001171366] Chr14:74065324 [GRCh38]
Chr14:74532027 [GRCh37]
Chr14:14q24.3
pathogenic
NM_005589.4(ALDH6A1):c.*2774G>C single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121061] Chr14:74057868 [GRCh38]
Chr14:74524571 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*2328C>T single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116151] Chr14:74058314 [GRCh38]
Chr14:74525017 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*839T>G single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001116261] Chr14:74059803 [GRCh38]
Chr14:74526506 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.*1016G>A single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001121184] Chr14:74059626 [GRCh38]
Chr14:74526329 [GRCh37]
Chr14:14q24.3
benign
NM_005589.4(ALDH6A1):c.1307A>G (p.Gln436Arg) single nucleotide variant Methylmalonate semialdehyde dehydrogenase deficiency [RCV001335296] Chr14:74065278 [GRCh38]
Chr14:74531981 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.827A>G (p.His276Arg) single nucleotide variant not provided [RCV001306523] Chr14:74068885 [GRCh38]
Chr14:74535588 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_005589.4(ALDH6A1):c.936del (p.Ala313fs) deletion Methylmalonate semialdehyde dehydrogenase deficiency [RCV001335297] Chr14:74067486 [GRCh38]
Chr14:74534189 [GRCh37]
Chr14:14q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7179 AgrOrtholog
COSMIC ALDH6A1 COSMIC
Ensembl Genes ENSG00000119711 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000342564 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000450436 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000452081 UniProtKB/TrEMBL
Ensembl Transcript ENST00000350259 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000553458 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000554501 ENTREZGENE
  ENST00000555126 UniProtKB/TrEMBL
Gene3D-CATH 3.40.309.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.605.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000119711 GTEx
HGNC ID HGNC:7179 ENTREZGENE
Human Proteome Map ALDH6A1 Human Proteome Map
InterPro Ald_DH/histidinol_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_CS_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldehyde_DH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MeMal-semiAld_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4329 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4329 ENTREZGENE
OMIM 603178 OMIM
  614105 OMIM
PANTHER PTHR43866 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldedh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24703 PharmGKB
PROSITE ALDEHYDE_DEHYDR_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53720 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs MMSDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R6G4 ENTREZGENE, UniProtKB/TrEMBL
  G3V4Z4_HUMAN UniProtKB/TrEMBL
  MMSA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R609 UniProtKB/Swiss-Prot
  B4DFS8 UniProtKB/Swiss-Prot
  J3KNU8 UniProtKB/Swiss-Prot
  Q9UKM8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ALDH6A1  aldehyde dehydrogenase 6 family member A1    aldehyde dehydrogenase 6 family, member A1  Symbol and/or name change 5135510 APPROVED
2011-09-01 ALDH6A1  aldehyde dehydrogenase 6 family, member A1  ALDH6A1  aldehyde dehydrogenase 6 family, member A1  Symbol and/or name change 5135510 APPROVED