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Results for the Protein: NP_001121644
189491757

serine/threonine-protein kinase PAK 3 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED 30
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Default View:

PBD - smart00285
STYKc - smart00221
TyrKc - smart00219
Pkinase_Tyr - pfam07714
S_TKc - smart00220
KIND - smart00750




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pkinase_Tyrpfam077141.2e-18289540
TyrKcsmart002197.1e-20289540
STYKcsmart002212.7e-89289540
S_TKcsmart002201.4e-96299540
KINDsmart007501.7e-77369548

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300142.0003 Diseasep.ALA350GLUMENTAL RETARDATION, X-LINKED 30
OMIM300142.0002 Diseasep.ARG67CYSMENTAL RETARDATION, X-LINKED 30
OMIM300142.0001 Diseasep.ARG404TERMENTAL RETARDATION, X-LINKED 30
OMIM300142.0004 Diseasep.TRP431SERMENTAL RETARDATION, X-LINKED 30



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