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Results for the Protein: NP_056656
70167032
103

double-stranded RNA-specific adenosine deaminase isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  AICARDI-GOUTIERES SYNDROME 6
  AICARDI-GOUTIERES SYNDROME 6, INCLUDED
  DYSCHROMATOSIS SYMMETRICA HEREDITARIA
13
1
13
1
0
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Default View:

Zalpha - smart00550
z-alpha - pfam02295
DSRM - cd00048
DSRM - smart00358
dsrm - pfam00035
ADEAMc - smart00552
A_deamin - pfam02137


RefSeq Protein: NP_056656
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DSRMcd000482.7e-19614680
DSRMcd000483.3e-18707773
z-alphapfam022955.3e-34135201
z-alphapfam022958.1e-33295359
dsrmpfam000353.5e-17504569
dsrmpfam000351.5e-13615680
dsrmpfam000353.8e-14708773
A_deaminpfam021371.2e-1408411172
Zalphasmart005505.1e-31134201
Zalphasmart005501.2e-31293359
DSRMsmart003581.2e-22504570
DSRMsmart003583.2e-19615681
DSRMsmart003581.1e-15708774
ADEAMcsmart005527e-2107941177

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2229857 Polymorphismp.LYS384ARGN/A
OMIM146920.0009 Diseasep.ALA825THRAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0008 Diseasep.ARG847HISAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0001 Diseasep.ARG474TERDYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0010 Diseasep.ASP1068HISAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0005 Diseasep.GLN693TERDYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0011 Diseasep.GLY962ARGDYSCHROMATOSIS SYMMETRICA HEREDITARIA||AICARDI-GOUTIERES SYNDROME 6, INCLUDED
OMIM146920.0014 Diseasep.ILE827THRAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0002 Diseasep.LEU878PRODYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0013 Diseasep.LYS954ASNAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0003 Diseasep.LYS907TERDYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0004 Diseasep.PHE1120SERDYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0007 Diseasep.PRO193ALAAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0012 Diseasep.TYR1067PHEAICARDI-GOUTIERES SYNDROME 6



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