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Results for the Protein: NP_001155179
239787787

kin of IRRE-like protein 3 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 4
2
1
2
1
0
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Default View:

I-set - pfam07679
IG_like - smart00410
IG - smart00409
V-set - pfam07686
C2-set_2 - pfam08205
IGc2 - smart00408




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IGsmart004091.4e-0954144
IG_likesmart004101.4e-0954144
V-setpfam076860.000556143
I-setpfam076795.3e-05150246
C2-set_2pfam082051.8e-05150238
IGsmart004090.00031155245
IG_likesmart004100.00031155245
I-setpfam076795.3e-15335416
IGsmart004092.9e-13341417
IG_likesmart004102.9e-13341417
IGc2smart004081.1e-08348405
I-setpfam076790.00034419516
IGsmart004091.6e-08425517
IG_likesmart004101.6e-08425517

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs111418068 Polymorphismp.ILE190VALN/A
OMIM607761.0002 Diseasep.ARG336GLNMENTAL RETARDATION, AUTOSOMAL DOMINANT 4
OMIM607761.0001 Diseasep.ARG40TRPMENTAL RETARDATION, AUTOSOMAL DOMINANT 4



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