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Results for the Protein: Q01432
399033
272

AMPD3_HUMAN RecName: Full=AMP deaminase 3; AltName: Full=AMP deaminase isoform E; AltName: Full=Erythrocyte AMP deaminase

Known Diseases associated with this Protein:
  ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY ERYTHROCYTE TYPE (AMPDDE)
  ERYTHROCYTE AMP DEAMINASE DEFICIENCY
11
2
1
2
10
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Default View:

AMPD - cd01319
A_deaminase - pfam00962
ADA_AMPD - cd00443
metallo-dependent_hy - cd01292
Add - COG1816


Swiss-Prot Protein: Q01432
Identical to: NP_001020560, NP_001165901
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ADA_AMPDcd004433.8e-93311718
metallo-dependent_hycd012925e-44313703
AddCOG18163.7e-59368733
A_deaminasepfam009625.1e-230310717

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_042608Diseasep.ALA320VALAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
Swiss-ProtVAR_042610Diseasep.ARG331CYSAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
Swiss-ProtVAR_042611Diseasep.ARG402CYSAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
Swiss-ProtVAR_009881Diseasep.ARG573CYSAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
dbSNPrs11042836 Polymorphismp.ARG185TRPN/A
Swiss-ProtVAR_042606Diseasep.ASN310LYSAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
Swiss-ProtVAR_042615Diseasep.GLN712PROAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
Swiss-ProtVAR_042609Diseasep.MET324THRAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
Swiss-ProtVAR_042614Diseasep.PRO585LEUAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
Swiss-ProtVAR_042612Diseasep.TRP450ARGAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
dbSNPrs36003153 Polymorphismp.TYR455HISN/A
Swiss-ProtVAR_042607Diseasep.VAL311LEUAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
OMIM102772.0001 Diseasep.ARG564CYSERYTHROCYTE AMP DEAMINASE DEFICIENCY



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