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Results for the Protein: P23109
384872309
270

AMPD1_HUMAN RecName: Full=AMP deaminase 1; AltName: Full=AMP deaminase isoform M; AltName: Full=Myoadenylate deaminase

Known Diseases associated with this Protein:
  MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
  MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (MMDD)
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Default View:

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


Swiss-Prot Protein: P23109
Identical to: NP_000027
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AMPDcd01319273769
ADA_AMPDcd004433.5e-82330737
metallo-dependent_hycd012921.2e-24332722
AddCOG18161.1e-50387752
A_deaminasepfam009627.5e-231329736

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013272Diseasep.ARG458HISMyopathy due to myoadenylate deaminase deficiency (MMDD)
Swiss-ProtVAR_013271Diseasep.ARG421TRPMyopathy due to myoadenylate deaminase deficiency (MMDD)
Swiss-ProtVAR_048860Polymorphismp.GLU55LYSN/A
Swiss-ProtVAR_035801Polymorphismp.PRO666HISN/A
dbSNPrs61752479 Polymorphismp.PRO81LEUN/A
OMIM102770.0003 Diseasep.ARG425HISMYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
OMIM102770.0002 Diseasep.ARG388TRPMYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
OMIM102770.0001 Diseasep.GLN12TERMYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY



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