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Results for the Protein: NP_001020278
70167113
103

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

Known Diseases associated with this Protein:
  AICARDI-GOUTIERES SYNDROME 6
  AICARDI-GOUTIERES SYNDROME 6, INCLUDED
  DYSCHROMATOSIS SYMMETRICA HEREDITARIA
12
1
12
1
0
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Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DSRMcd000482.7e-19319385
DSRMcd000483.3e-18431497
z-alphapfam022955.6e-31164
dsrmpfam000353.5e-17209274
dsrmpfam000351.5e-13320385
dsrmpfam000353.8e-14432497
A_deaminpfam021371.2e-140591922
Zalphasmart005501.3e-28164
DSRMsmart003581.2e-22209275
DSRMsmart003583.2e-19320386
DSRMsmart003581.1e-15432498
ADEAMcsmart005527e-210544927

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2229857 Polymorphismp.LYS89ARGN/A
OMIM146920.0009 Diseasep.ALA575THRAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0008 Diseasep.ARG597HISAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0001 Diseasep.ARG179TERDYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0010 Diseasep.ASP818HISAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0005 Diseasep.GLN398TERDYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0011 Diseasep.GLY712ARGDYSCHROMATOSIS SYMMETRICA HEREDITARIA||AICARDI-GOUTIERES SYNDROME 6, INCLUDED
OMIM146920.0014 Diseasep.ILE577THRAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0002 Diseasep.LEU628PRODYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0013 Diseasep.LYS704ASNAICARDI-GOUTIERES SYNDROME 6
OMIM146920.0003 Diseasep.LYS657TERDYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0004 Diseasep.PHE870SERDYSCHROMATOSIS SYMMETRICA HEREDITARIA
OMIM146920.0012 Diseasep.TYR817PHEAICARDI-GOUTIERES SYNDROME 6



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