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Results for the Protein: P54819
1708596
204
AK2

KAD2_HUMAN RecName: Full=Adenylate kinase 2, mitochondrial; Short=AK 2; AltName: Full=ATP-AMP transphosphorylase 2; AltName: Full=ATP:AMP phosphotransferase; AltName: Full=Adenylate monophosphate kinase; Contains: RecName: Full=Adenylate kinase 2, mitochondrial, N-terminally processed

Known Diseases associated with this Protein:
  RETICULAR DYSGENESIS
  RETICULAR DYSGENESIS (RDYS)
8
1
6
0
3
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Default View:

Adk - COG0563
NK - cd02019
ADK - cd01428
ADK - pfam00406
ADK_lid - pfam05191


Swiss-Prot Protein: P54819
Identical to: NP_001616
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AdkCOG05639.6e-9816228
ADKcd014282.1e-11617219
NKcd020191e-1917212
ADKpfam004062.1e-12820206
ADK_lidpfam051913.1e-19142177

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_050032Polymorphismp.ALA209THRN/A
Swiss-ProtVAR_054630Diseasep.ARG103TRPReticular dysgenesis (RDYS)
Swiss-ProtVAR_054631Diseasep.ASP165GLYReticular dysgenesis (RDYS)
OMIM103020.0009 Diseasep.ARG186CYSRETICULAR DYSGENESIS
OMIM103020.0011 Diseasep.ARG103TRPRETICULAR DYSGENESIS
OMIM103020.0007 Diseasep.ASP165GLYRETICULAR DYSGENESIS
OMIM103020.0013 Diseasep.GLU9TERRETICULAR DYSGENESIS
OMIM103020.0008 Diseasep.LEU183TERRETICULAR DYSGENESIS
OMIM103020.0012 Diseasep.LYS233TERRETICULAR DYSGENESIS



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