AMPD3 (adenosine monophosphate deaminase 3) - Rat Genome Database

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Gene: AMPD3 (adenosine monophosphate deaminase 3) Homo sapiens
Analyze
Symbol: AMPD3
Name: adenosine monophosphate deaminase 3
RGD ID: 732010
HGNC Page HGNC
Description: Predicted to enable AMP deaminase activity. Predicted to be involved in erythrocyte homeostasis and purine ribonucleotide metabolic process. Predicted to act upstream of or within ADP metabolic process; ATP metabolic process; and energy homeostasis. Predicted to be located in extracellular region; ficolin-1-rich granule lumen; and secretory granule lumen. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adenosine monophosphate deaminase (isoform E); AMP aminohydrolase; AMP deaminase 3; erythrocyte AMP deaminase; erythrocyte type AMP deaminase; erythrocyte-specific AMP deaminase; myoadenylate deaminase
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 Ensembl1110,308,313 - 10,507,579 (+)EnsemblGRCh38hg38GRCh38
GRCh381110,450,388 - 10,507,579 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371110,471,935 - 10,529,126 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,428,800 - 10,485,702 (+)NCBINCBI36hg18NCBI36
Build 341110,428,799 - 10,485,247NCBI
Celera1110,593,627 - 10,650,868 (+)NCBI
Cytogenetic Map11p15.4NCBI
HuRef1110,144,687 - 10,201,742 (+)NCBIHuRef
CHM1_11110,469,929 - 10,527,173 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,3-benzothiazole-2-thiol  (EXP)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-phenylprop-2-enal  (EXP)
5-aza-2'-deoxycytidine  (ISO)
7beta-aminocephalosporanic acid  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP)
ammonium acetate  (ISO)
ammonium chloride  (ISO)
ammonium hexachloroplatinate  (EXP)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benomyl  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
DDE  (ISO)
dexamethasone  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epichlorohydrin  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
furan  (ISO)
genistein  (ISO)
graphite  (ISO)
hexamethylene diisocyanate  (EXP)
lipopolysaccharide  (ISO)
mechlorethamine  (ISO)
mercaptopurine  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
pravastatin  (ISO)
progesterone  (ISO)
propanal  (EXP)
purine-6-thiol  (ISO)
quercetin  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium nitrite  (EXP)
Soman  (ISO)
succimer  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
topotecan  (ISO)
trichostatin A  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1400401   PMID:1420359   PMID:1429593   PMID:3804327   PMID:7287721   PMID:7881427   PMID:8004104   PMID:8140814   PMID:8611627   PMID:8863347   PMID:9857047   PMID:11139257  
PMID:12213808   PMID:12477932   PMID:12604357   PMID:15174051   PMID:15807549   PMID:16670071   PMID:18409530   PMID:18493842   PMID:20379614   PMID:20686565   PMID:21873635   PMID:22145905  
PMID:24097068   PMID:25910212   PMID:29987050   PMID:30021884   PMID:31586073   PMID:32296183  


Genomics

Comparative Map Data
AMPD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1110,308,313 - 10,507,579 (+)EnsemblGRCh38hg38GRCh38
GRCh381110,450,388 - 10,507,579 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371110,471,935 - 10,529,126 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361110,428,800 - 10,485,702 (+)NCBINCBI36hg18NCBI36
Build 341110,428,799 - 10,485,247NCBI
Celera1110,593,627 - 10,650,868 (+)NCBI
Cytogenetic Map11p15.4NCBI
HuRef1110,144,687 - 10,201,742 (+)NCBIHuRef
CHM1_11110,469,929 - 10,527,173 (+)NCBICHM1_1
Ampd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397110,367,223 - 110,411,616 (+)NCBIGRCm39mm39
GRCm39 Ensembl7110,367,413 - 110,411,612 (+)Ensembl
GRCm387110,767,790 - 110,812,409 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7110,768,206 - 110,812,405 (+)EnsemblGRCm38mm10GRCm38
MGSCv377117,916,118 - 117,955,909 (+)NCBIGRCm37mm9NCBIm37
MGSCv367110,563,781 - 110,603,572 (+)NCBImm8
Celera7110,746,081 - 110,786,296 (+)NCBICelera
Cytogenetic Map7E3NCBI
cM Map757.85NCBI
Ampd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21164,884,823 - 164,929,899 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1164,885,320 - 164,929,887 (+)Ensembl
Rnor_6.01175,585,301 - 175,630,479 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1175,586,097 - 175,630,467 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01182,573,239 - 182,618,415 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41168,519,462 - 168,568,291 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11168,644,154 - 168,678,954 (+)NCBI
Celera1162,776,701 - 162,820,660 (+)NCBICelera
RH 3.4 Map11330.8RGD
Cytogenetic Map1q33NCBI
Ampd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541426,072,855 - 26,116,448 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541426,073,192 - 26,116,448 (+)NCBIChiLan1.0ChiLan1.0
AMPD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11110,309,436 - 10,365,369 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1110,309,436 - 10,365,369 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01110,581,730 - 10,638,777 (+)NCBIMhudiblu_PPA_v0panPan3
AMPD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.02134,487,335 - 34,534,074 (+)NCBI
Ampd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494751,814,360 - 51,857,818 (-)NCBI
SpeTri2.0NW_0049365287,847,156 - 7,891,585 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMPD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl249,028,923 - 49,083,590 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1249,026,695 - 49,084,982 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2252,377,794 - 52,432,705 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AMPD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1154,318,746 - 54,374,361 (-)NCBI
ChlSab1.1 Ensembl154,316,334 - 54,373,619 (-)Ensembl
Vero_WHO_p1.0NW_023666038151,984,708 - 152,040,518 (-)NCBI
Ampd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247662,542,021 - 2,586,912 (+)NCBI

Position Markers
RH46259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,528,863 - 10,529,019UniSTSGRCh37
Build 361110,485,439 - 10,485,595RGDNCBI36
Celera1110,650,605 - 10,650,761RGD
Cytogenetic Map11p15UniSTS
HuRef1110,201,479 - 10,201,635UniSTS
GeneMap99-GB4 RH Map1147.27UniSTS
D11S3721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,501,410 - 10,501,598UniSTSGRCh37
Build 361110,457,986 - 10,458,174RGDNCBI36
Celera1110,623,169 - 10,623,357RGD
Cytogenetic Map11p15UniSTS
HuRef1110,174,045 - 10,174,233UniSTS
D11S3937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,518,341 - 10,518,446UniSTSGRCh37
Build 361110,474,917 - 10,475,022RGDNCBI36
Celera1110,640,093 - 10,640,198RGD
Cytogenetic Map11p15UniSTS
HuRef1110,190,968 - 10,191,073UniSTS
PMC31832P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT2,806 - 2,946UniSTSGRCh37
GRCh371110,529,460 - 10,529,600UniSTSGRCh37
Build 361110,486,036 - 10,486,176RGDNCBI36
Celera1110,651,202 - 10,651,342RGD
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map6q24.2UniSTS
MARC_44783-45779:1101739380:7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,517,132 - 10,518,483UniSTSGRCh37
Build 361110,473,708 - 10,475,059RGDNCBI36
Celera1110,638,884 - 10,640,235RGD
HuRef1110,189,759 - 10,191,110UniSTS
MARC_45777-45778:1101741591:5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,516,553 - 10,517,153UniSTSGRCh37
Build 361110,473,129 - 10,473,729RGDNCBI36
Celera1110,638,305 - 10,638,905RGD
HuRef1110,189,180 - 10,189,780UniSTS
D6S2084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,527,493 - 10,527,662UniSTSGRCh37
Build 361110,484,069 - 10,484,238RGDNCBI36
Celera1110,649,235 - 10,649,404RGD
Cytogenetic Map11p15UniSTS
HuRef1110,200,109 - 10,200,278UniSTS
STS-U29926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,528,720 - 10,528,844UniSTSGRCh37
Build 361110,485,296 - 10,485,420RGDNCBI36
Celera1110,650,462 - 10,650,586RGD
Cytogenetic Map11p15UniSTS
HuRef1110,201,336 - 10,201,460UniSTS
GeneMap99-GB4 RH Map1148.79UniSTS
G15890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,528,250 - 10,528,495UniSTSGRCh37
Build 361110,484,826 - 10,485,071RGDNCBI36
Celera1110,649,992 - 10,650,237RGD
Cytogenetic Map11p15UniSTS
HuRef1110,200,866 - 10,201,111UniSTS
MARC_44785-45781:1101739916:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,521,726 - 10,523,122UniSTSGRCh37
Celera1110,643,478 - 10,644,874UniSTS
HuRef1110,194,353 - 10,195,749UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5988
Count of miRNA genes:1263
Interacting mature miRNAs:1598
Transcripts:ENST00000295663, ENST00000396553, ENST00000396554, ENST00000444303, ENST00000524866, ENST00000527261, ENST00000527369, ENST00000528723, ENST00000529507, ENST00000529744, ENST00000529834, ENST00000529835, ENST00000530864, ENST00000531227, ENST00000532250, ENST00000532966, ENST00000533116, ENST00000534047
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
High
Medium 97 411 540 21 1208 13 1533 653 617 94 255 283 19 44 1120
Low 2319 2341 1082 500 732 350 2763 1353 3089 318 1181 1313 152 1 1158 1634 4
Below cutoff 14 232 102 100 9 100 58 185 24 7 19 12 1 2 34 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001025389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001025390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D12775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D31646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC334250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC401375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,330,660 - 10,410,838 (+)Ensembl
RefSeq Acc Id: ENST00000396553   ⟹   ENSP00000379801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,455,320 - 10,507,126 (+)Ensembl
RefSeq Acc Id: ENST00000396554   ⟹   ENSP00000379802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,450,681 - 10,507,018 (+)Ensembl
RefSeq Acc Id: ENST00000444303   ⟹   ENSP00000396000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,450,321 - 10,507,579 (+)Ensembl
RefSeq Acc Id: ENST00000524866   ⟹   ENSP00000433284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,450,700 - 10,485,031 (+)Ensembl
RefSeq Acc Id: ENST00000527261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,308,313 - 10,410,838 (+)Ensembl
RefSeq Acc Id: ENST00000527369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,408,368 - 10,410,822 (+)Ensembl
RefSeq Acc Id: ENST00000528723   ⟹   ENSP00000436987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,456,186 - 10,506,111 (+)Ensembl
RefSeq Acc Id: ENST00000529507   ⟹   ENSP00000431648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,461,140 - 10,506,446 (+)Ensembl
RefSeq Acc Id: ENST00000529744   ⟹   ENSP00000434608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,500,185 - 10,505,891 (+)Ensembl
RefSeq Acc Id: ENST00000529834   ⟹   ENSP00000435382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,455,407 - 10,505,812 (+)Ensembl
RefSeq Acc Id: ENST00000529835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,450,321 - 10,482,168 (+)Ensembl
RefSeq Acc Id: ENST00000530864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,498,401 - 10,504,658 (+)Ensembl
RefSeq Acc Id: ENST00000531227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,481,883 - 10,485,021 (+)Ensembl
RefSeq Acc Id: ENST00000532250   ⟹   ENSP00000432707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,317,671 - 10,478,637 (+)Ensembl
RefSeq Acc Id: ENST00000532966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,357,273 - 10,410,838 (+)Ensembl
RefSeq Acc Id: ENST00000533116   ⟹   ENSP00000433351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,493,367 - 10,495,632 (+)Ensembl
RefSeq Acc Id: ENST00000534047   ⟹   ENSP00000433937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1110,450,942 - 10,505,884 (+)Ensembl
RefSeq Acc Id: NM_000480   ⟹   NP_000471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,450,691 - 10,507,579 (+)NCBI
GRCh371110,471,846 - 10,529,126 (+)NCBI
Build 361110,428,800 - 10,485,702 (+)NCBI Archive
HuRef1110,144,687 - 10,201,742 (+)ENTREZGENE
CHM1_11110,470,285 - 10,527,173 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001025389   ⟹   NP_001020560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,455,264 - 10,507,579 (+)NCBI
GRCh371110,471,846 - 10,529,126 (+)NCBI
Build 361110,433,242 - 10,485,702 (+)NCBI Archive
HuRef1110,144,687 - 10,201,742 (+)ENTREZGENE
CHM1_11110,474,726 - 10,527,173 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001025390   ⟹   NP_001020561
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,456,056 - 10,507,579 (+)NCBI
GRCh371110,471,846 - 10,529,126 (+)NCBI
Build 361110,434,057 - 10,485,702 (+)NCBI Archive
HuRef1110,144,687 - 10,201,742 (+)ENTREZGENE
CHM1_11110,475,541 - 10,527,173 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172430   ⟹   NP_001165901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,461,131 - 10,507,579 (+)NCBI
GRCh371110,471,846 - 10,529,126 (+)NCBI
HuRef1110,144,687 - 10,201,742 (+)ENTREZGENE
CHM1_11110,480,734 - 10,527,173 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172431   ⟹   NP_001165902
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,450,388 - 10,507,579 (+)NCBI
GRCh371110,471,846 - 10,529,126 (+)NCBI
HuRef1110,144,687 - 10,201,742 (+)ENTREZGENE
CHM1_11110,469,929 - 10,527,173 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001165902   ⟸   NM_001172431
- Peptide Label: isoform 4
- UniProtKB: Q01432 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000471   ⟸   NM_000480
- Peptide Label: isoform 1A
- UniProtKB: Q01432 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020560   ⟸   NM_001025389
- Peptide Label: isoform 1B
- UniProtKB: Q01432 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020561   ⟸   NM_001025390
- Peptide Label: isoform 1C
- UniProtKB: Q01432 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165901   ⟸   NM_001172430
- Peptide Label: isoform 1B
- UniProtKB: Q01432 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000432707   ⟸   ENST00000532250
RefSeq Acc Id: ENSP00000433351   ⟸   ENST00000533116
RefSeq Acc Id: ENSP00000433937   ⟸   ENST00000534047
RefSeq Acc Id: ENSP00000396000   ⟸   ENST00000444303
RefSeq Acc Id: ENSP00000433284   ⟸   ENST00000524866
RefSeq Acc Id: ENSP00000436987   ⟸   ENST00000528723
RefSeq Acc Id: ENSP00000379802   ⟸   ENST00000396554
RefSeq Acc Id: ENSP00000379801   ⟸   ENST00000396553
RefSeq Acc Id: ENSP00000434608   ⟸   ENST00000529744
RefSeq Acc Id: ENSP00000431648   ⟸   ENST00000529507
RefSeq Acc Id: ENSP00000435382   ⟸   ENST00000529834
Protein Domains
A_deaminase

Promoters
RGD ID:6788454
Promoter ID:HG_KWN:12319
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:NM_000480,   NM_001172431,   UC009YFW.1,   UC009YFX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361110,428,706 - 10,429,206 (+)MPROMDB
RGD ID:6788456
Promoter ID:HG_KWN:12320
Type:Non-CpG
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_001025389,   NM_001025390
Position:
Human AssemblyChrPosition (strand)Source
Build 361110,433,161 - 10,434,387 (+)MPROMDB
RGD ID:7219633
Promoter ID:EPDNEW_H15563
Type:initiation region
Name:AMPD3_2
Description:adenosine monophosphate deaminase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15562  EPDNEW_H15565  EPDNEW_H15566  EPDNEW_H15564  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,450,691 - 10,450,751EPDNEW
RGD ID:7219641
Promoter ID:EPDNEW_H15564
Type:initiation region
Name:AMPD3_3
Description:adenosine monophosphate deaminase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15563  EPDNEW_H15562  EPDNEW_H15565  EPDNEW_H15566  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,450,942 - 10,451,002EPDNEW
RGD ID:7219637
Promoter ID:EPDNEW_H15565
Type:initiation region
Name:AMPD3_1
Description:adenosine monophosphate deaminase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15563  EPDNEW_H15562  EPDNEW_H15566  EPDNEW_H15564  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,455,264 - 10,455,324EPDNEW
RGD ID:7219639
Promoter ID:EPDNEW_H15566
Type:initiation region
Name:AMPD3_4
Description:adenosine monophosphate deaminase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15563  EPDNEW_H15562  EPDNEW_H15565  EPDNEW_H15564  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381110,456,056 - 10,456,116EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000480.3(AMPD3):c.1744C>T (p.Arg582Cys) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000019932] Chr11:10500245 [GRCh38]
Chr11:10521792 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|affects
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
NM_000480.2(AMPD3):c.773C>T (p.Pro258Leu) single nucleotide variant Malignant melanoma [RCV000069144] Chr11:10484976 [GRCh38]
Chr11:10506523 [GRCh37]
Chr11:10463099 [NCBI36]
Chr11:11p15.4
not provided
NM_000480.3(AMPD3):c.249-17T>C single nucleotide variant not specified [RCV000079368] Chr11:10478509 [GRCh38]
Chr11:10500056 [GRCh37]
Chr11:11p15.4
benign
NM_001025389.2(AMPD3):c.573G>A (p.Pro191=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000309017]|not specified [RCV000079369] Chr11:10482209 [GRCh38]
Chr11:10503756 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000480.3(AMPD3):c.1472C>T (p.Ser491Leu) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001105108]|not provided [RCV000173720] Chr11:10496826 [GRCh38]
Chr11:10518373 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1851C>T (p.His617=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108461]|not provided [RCV000174267] Chr11:10501572 [GRCh38]
Chr11:10523119 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 copy number loss See cases [RCV000136773] Chr11:9989516..16825806 [GRCh38]
Chr11:10011063..16847353 [GRCh37]
Chr11:9967639..16803929 [NCBI36]
Chr11:11p15.4-15.2
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106152]|not provided [RCV000514336]|not specified [RCV000152785] Chr11:10487356 [GRCh38]
Chr11:10508903 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_000480.3(AMPD3):c.1530C>T (p.Phe510=) single nucleotide variant not specified [RCV000152786] Chr11:10496884 [GRCh38]
Chr11:10518431 [GRCh37]
Chr11:11p15.4
benign
NM_000480.3(AMPD3):c.1043C>T (p.Thr348Met) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108359]|not provided [RCV000179800] Chr11:10493425 [GRCh38]
Chr11:10514972 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1162-5C>A single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103191]|not provided [RCV000180198] Chr11:10494894 [GRCh38]
Chr11:10516441 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1294-3C>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000267617] Chr11:10495567 [GRCh38]
Chr11:10517114 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.987G>A (p.Ala329=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000369652]|not provided [RCV000964319] Chr11:10493369 [GRCh38]
Chr11:10514916 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_000480.3(AMPD3):c.1540A>G (p.Ile514Val) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000283072] Chr11:10496894 [GRCh38]
Chr11:10518441 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*431A>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000301068] Chr11:10506315 [GRCh38]
Chr11:10527862 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1415A>T (p.Tyr472Phe) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000322737] Chr11:10495691 [GRCh38]
Chr11:10517238 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4308T>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000302618] Chr11:10455351 [GRCh38]
Chr11:10476898 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000480.3(AMPD3):c.*1070A>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000267415] Chr11:10506954 [GRCh38]
Chr11:10528501 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000480.3(AMPD3):c.*1536T>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000326121] Chr11:10507420 [GRCh38]
Chr11:10528967 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4329T>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000271017] Chr11:10455372 [GRCh38]
Chr11:10476919 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000480.3(AMPD3):c.435C>T (p.Ser145=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000374536] Chr11:10478712 [GRCh38]
Chr11:10500259 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1716T>C (p.Tyr572=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000289441]|not specified [RCV000730525] Chr11:10500217 [GRCh38]
Chr11:10521764 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000480.3(AMPD3):c.1479G>A (p.Lys493=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000377393] Chr11:10496833 [GRCh38]
Chr11:10518380 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1008G>T (p.Lys336Asn) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000275085] Chr11:10493390 [GRCh38]
Chr11:10514937 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.310G>A (p.Asp104Asn) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000332124] Chr11:10478587 [GRCh38]
Chr11:10500134 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.380C>T (p.Ser127Phe) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000293040] Chr11:10478657 [GRCh38]
Chr11:10500204 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*694A>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000356193] Chr11:10506578 [GRCh38]
Chr11:10528125 [GRCh37]
Chr11:11p15.4
benign
NM_000480.3(AMPD3):c.*1585G>A single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000380698] Chr11:10507469 [GRCh38]
Chr11:10529016 [GRCh37]
Chr11:11p15.4
benign
NM_000480.3(AMPD3):c.696C>T (p.His232=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000406009]|not provided [RCV000959902] Chr11:10484899 [GRCh38]
Chr11:10506446 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_000480.3(AMPD3):c.1158C>T (p.His386=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000261611]|not provided [RCV000956911] Chr11:10493540 [GRCh38]
Chr11:10515087 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_000480.3(AMPD3):c.*845A>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000261350] Chr11:10506729 [GRCh38]
Chr11:10528276 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.453+8G>A single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000335050]|not provided [RCV000959165] Chr11:10478738 [GRCh38]
Chr11:10500285 [GRCh37]
Chr11:11p15.4
benign|uncertain significance
NM_000480.3(AMPD3):c.1755C>T (p.Arg585=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000408016] Chr11:10501476 [GRCh38]
Chr11:10523023 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.2316C>T (p.Thr772=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000313873] Chr11:10505869 [GRCh38]
Chr11:10527416 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4099A>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000336551] Chr11:10455142 [GRCh38]
Chr11:10476689 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000480.3(AMPD3):c.22+4172G>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000360916] Chr11:10455215 [GRCh38]
Chr11:10476762 [GRCh37]
Chr11:11p15.4
benign
NM_000480.3(AMPD3):c.298C>T (p.Pro100Ser) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000277030] Chr11:10478575 [GRCh38]
Chr11:10500122 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1052A>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000361828] Chr11:10506936 [GRCh38]
Chr11:10528483 [GRCh37]
Chr11:11p15.4
benign
NM_000480.3(AMPD3):c.23-6T>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000362209] Chr11:10461509 [GRCh38]
Chr11:10483056 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1285A>G (p.Met429Val) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000316795] Chr11:10495022 [GRCh38]
Chr11:10516569 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.627T>G (p.Pro209=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000363747] Chr11:10484830 [GRCh38]
Chr11:10506377 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.527G>T (p.Arg176Leu) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000340774] Chr11:10482136 [GRCh38]
Chr11:10503683 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4323G>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000365650] Chr11:10455366 [GRCh38]
Chr11:10476913 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000480.3(AMPD3):c.450C>T (p.Ala150=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000279958] Chr11:10478727 [GRCh38]
Chr11:10500274 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.580C>T (p.Arg194Trp) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000393007]|not specified [RCV000727606] Chr11:10482189 [GRCh38]
Chr11:10503736 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000480.3(AMPD3):c.22+4108C>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000392633] Chr11:10455151 [GRCh38]
Chr11:10476698 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000480.3(AMPD3):c.389C>T (p.Thr130Met) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000319903] Chr11:10478666 [GRCh38]
Chr11:10500213 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1090A>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000322570] Chr11:10506974 [GRCh38]
Chr11:10528521 [GRCh37]
Chr11:11p15.4
benign
NM_000480.3(AMPD3):c.1294-13C>A single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000371547] Chr11:10495557 [GRCh38]
Chr11:10517104 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.487A>G (p.Ser163Gly) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000398753] Chr11:10482096 [GRCh38]
Chr11:10503643 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1297T>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000273279] Chr11:10507181 [GRCh38]
Chr11:10528728 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1681T>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000350698] Chr11:10507565 [GRCh38]
Chr11:10529112 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1107C>T (p.Asp369=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000330043] Chr11:10493489 [GRCh38]
Chr11:10515036 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4211G>A single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000402781] Chr11:10455254 [GRCh38]
Chr11:10476801 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1627G>A (p.Asp543Asn) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000383826] Chr11:10500128 [GRCh38]
Chr11:10521675 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*287T>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000407983] Chr11:10506171 [GRCh38]
Chr11:10527718 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.912C>T (p.Ser304=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000314700] Chr11:10487310 [GRCh38]
Chr11:10508857 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.352A>G (p.Thr118Ala) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000386670] Chr11:10478629 [GRCh38]
Chr11:10500176 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1543A>G (p.Asn515Asp) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000347375] Chr11:10496897 [GRCh38]
Chr11:10518444 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4171A>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000306207] Chr11:10455214 [GRCh38]
Chr11:10476761 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*121del deletion Erythrocyte AMP deaminase deficiency [RCV000349989] Chr11:10506002 [GRCh38]
Chr11:10527549 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1672_*1675TAAA[1] microsatellite Erythrocyte AMP deaminase deficiency [RCV000295743] Chr11:10507556..10507559 [GRCh38]
Chr11:10529103..10529106 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.512G>A (p.Arg171Gln) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000285685] Chr11:10482121 [GRCh38]
Chr11:10503668 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1013_*1014GT[11] microsatellite Erythrocyte AMP deaminase deficiency [RCV000297762] Chr11:10506895..10506896 [GRCh38]
Chr11:10528442..10528443 [GRCh37]
Chr11:11p15.4
likely benign
NM_000480.3(AMPD3):c.1114C>T (p.His372Tyr) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV000356848] Chr11:10493496 [GRCh38]
Chr11:10515043 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4363_22+4368del deletion Erythrocyte AMP deaminase deficiency [RCV000326189] Chr11:10455404..10455409 [GRCh38]
Chr11:10476951..10476956 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1181dup duplication Erythrocyte AMP deaminase deficiency [RCV000377070] Chr11:10507062..10507063 [GRCh38]
Chr11:10528609..10528610 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000480.3(AMPD3):c.1094G>A (p.Arg365Gln) single nucleotide variant not provided [RCV000969602] Chr11:10493476 [GRCh38]
Chr11:10515023 [GRCh37]
Chr11:11p15.4
benign
NM_000480.3(AMPD3):c.1390T>C (p.Tyr464His) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001105107]|not provided [RCV000947325] Chr11:10495666 [GRCh38]
Chr11:10517213 [GRCh37]
Chr11:11p15.4
benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Russell-Silver syndrome [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_000480.3(AMPD3):c.624C>T (p.His208=) single nucleotide variant not provided [RCV000927101] Chr11:10484827 [GRCh38]
Chr11:10506374 [GRCh37]
Chr11:11p15.4
likely benign
NM_000480.3(AMPD3):c.108A>C (p.Lys36Asn) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108282] Chr11:10461600 [GRCh38]
Chr11:10483147 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1018C>T (p.Arg340Cys) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108358] Chr11:10493400 [GRCh38]
Chr11:10514947 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1736A>G (p.Asn579Ser) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108457] Chr11:10500237 [GRCh38]
Chr11:10521784 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1756G>A (p.Gly586Ser) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108458] Chr11:10501477 [GRCh38]
Chr11:10523024 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.454-13C>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103080] Chr11:10482050 [GRCh38]
Chr11:10503597 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.729C>T (p.Asn243=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106149] Chr11:10484932 [GRCh38]
Chr11:10506479 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.2145C>T (p.Leu715=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103278] Chr11:10504650 [GRCh38]
Chr11:10526197 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1576C>G (p.Leu526Val) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106233] Chr11:10496930 [GRCh38]
Chr11:10518477 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.958G>A (p.Val320Met) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106151] Chr11:10487356 [GRCh38]
Chr11:10508903 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1641C>T (p.Ser547=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106235] Chr11:10500142 [GRCh38]
Chr11:10521689 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1701C>T (p.Tyr567=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106236] Chr11:10500202 [GRCh38]
Chr11:10521749 [GRCh37]
Chr11:11p15.4
likely benign
NM_000480.3(AMPD3):c.22+4386C>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108278] Chr11:10455429 [GRCh38]
Chr11:10476976 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4402G>A single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108279] Chr11:10455445 [GRCh38]
Chr11:10476992 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.83T>C (p.Leu28Pro) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108281] Chr11:10461575 [GRCh38]
Chr11:10483122 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1117A>G (p.Met373Val) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103189] Chr11:10493499 [GRCh38]
Chr11:10515046 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1162-5C>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103192] Chr11:10494894 [GRCh38]
Chr11:10516441 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*327G>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103281] Chr11:10506211 [GRCh38]
Chr11:10527758 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4148T>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001104885] Chr11:10455191 [GRCh38]
Chr11:10476738 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1344G>T (p.Arg448=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001105106] Chr11:10495620 [GRCh38]
Chr11:10517167 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1523C>T (p.Pro508Leu) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001105109] Chr11:10496877 [GRCh38]
Chr11:10518424 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*771C>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001105195] Chr11:10506655 [GRCh38]
Chr11:10528202 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1108G>A (p.Gly370Ser) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108361]|not provided [RCV000956910] Chr11:10493490 [GRCh38]
Chr11:10515037 [GRCh37]
Chr11:11p15.4
benign|likely benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_000480.3(AMPD3):c.1162-6C>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103190] Chr11:10494893 [GRCh38]
Chr11:10516440 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.34C>T (p.Arg12Trp) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108280] Chr11:10461526 [GRCh38]
Chr11:10483073 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1001A>G (p.Asn334Ser) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108357] Chr11:10493383 [GRCh38]
Chr11:10514930 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1766C>T (p.Thr589Met) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108459] Chr11:10501487 [GRCh38]
Chr11:10523034 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1798G>A (p.Gly600Ser) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108460] Chr11:10501519 [GRCh38]
Chr11:10523066 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1303C>T (p.Arg435Trp) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001105104] Chr11:10495579 [GRCh38]
Chr11:10517126 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1331A>G (p.Tyr444Cys) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001105105] Chr11:10495607 [GRCh38]
Chr11:10517154 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.863A>G (p.Asn288Ser) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106150] Chr11:10487261 [GRCh38]
Chr11:10508808 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.966+13C>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106153] Chr11:10487377 [GRCh38]
Chr11:10508924 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1596T>G (p.Phe532Leu) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106234] Chr11:10500097 [GRCh38]
Chr11:10521644 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1520A>G single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106322] Chr11:10507404 [GRCh38]
Chr11:10528951 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1221T>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106319] Chr11:10507105 [GRCh38]
Chr11:10528652 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1381C>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106321] Chr11:10507265 [GRCh38]
Chr11:10528812 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.137C>T (p.Ala46Val) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108283] Chr11:10461629 [GRCh38]
Chr11:10483176 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1093C>T (p.Arg365Trp) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108360] Chr11:10493475 [GRCh38]
Chr11:10515022 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.1918A>C (p.Met640Leu) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108462] Chr11:10502769 [GRCh38]
Chr11:10524316 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.486G>A (p.Lys162=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001104991] Chr11:10482095 [GRCh38]
Chr11:10503642 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.525G>A (p.Ala175=) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001104992] Chr11:10482134 [GRCh38]
Chr11:10503681 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*603G>A single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001105194] Chr11:10506487 [GRCh38]
Chr11:10528034 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.22+4295A>C single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106052] Chr11:10455338 [GRCh38]
Chr11:10476885 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*1245G>A single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001106320] Chr11:10507129 [GRCh38]
Chr11:10528676 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.2128G>T (p.Val710Leu) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103277] Chr11:10504633 [GRCh38]
Chr11:10526180 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.*75C>T single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103280] Chr11:10505959 [GRCh38]
Chr11:10527506 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.2294C>G (p.Ala765Gly) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001103279] Chr11:10505847 [GRCh38]
Chr11:10527394 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000480.3(AMPD3):c.2009C>T (p.Ser670Phe) single nucleotide variant Erythrocyte AMP deaminase deficiency [RCV001108463] Chr11:10502860 [GRCh38]
Chr11:10524407 [GRCh37]
Chr11:11p15.4
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:470 AgrOrtholog
COSMIC AMPD3 COSMIC
Ensembl Genes ENSG00000133805 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000379801 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379802 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396000 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431648 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432707 UniProtKB/TrEMBL
  ENSP00000433284 UniProtKB/TrEMBL
  ENSP00000433351 UniProtKB/TrEMBL
  ENSP00000433937 UniProtKB/TrEMBL
  ENSP00000434608 UniProtKB/TrEMBL
  ENSP00000435382 UniProtKB/TrEMBL
  ENSP00000436987 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000396553 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396554 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000444303 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524866 UniProtKB/TrEMBL
  ENST00000528723 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529744 UniProtKB/TrEMBL
  ENST00000529834 UniProtKB/TrEMBL
  ENST00000532250 UniProtKB/TrEMBL
  ENST00000533116 UniProtKB/TrEMBL
  ENST00000534047 UniProtKB/TrEMBL
GTEx ENSG00000133805 GTEx
HGNC ID HGNC:470 ENTREZGENE
Human Proteome Map AMPD3 Human Proteome Map
InterPro A/AMP_deam_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/AMP_deaminase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMPD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMPD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metal_Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:272 UniProtKB/Swiss-Prot
NCBI Gene 272 ENTREZGENE
OMIM 102772 OMIM
  612874 OMIM
PANTHER PTHR11359 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11359:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam A_deaminase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24778 PharmGKB
PIRSF AMP_deaminase_met UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE A_DEAMINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51556 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs AMP_deaminase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AMPD3_HUMAN UniProtKB/Swiss-Prot
  E9PIR5_HUMAN UniProtKB/TrEMBL
  E9PKC5_HUMAN UniProtKB/TrEMBL
  E9PLK6_HUMAN UniProtKB/TrEMBL
  E9PPG2_HUMAN UniProtKB/TrEMBL
  H0YDC3_HUMAN UniProtKB/TrEMBL
  H0YDY8_HUMAN UniProtKB/TrEMBL
  Q01432 ENTREZGENE
UniProt Secondary A0AUX0 UniProtKB/Swiss-Prot
  B7Z2S2 UniProtKB/Swiss-Prot
  B7Z763 UniProtKB/Swiss-Prot
  B7Z877 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-17 AMPD3  adenosine monophosphate deaminase 3  AMPD3  adenosine monophosphate deaminase 3  Symbol and/or name change 5135510 APPROVED
2011-07-27 AMPD3  adenosine monophosphate deaminase 3  AMPD3  adenosine monophosphate deaminase (isoform E)  Symbol and/or name change 5135510 APPROVED