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Results for the Protein: Q7Z699
57013078

SPRE1_HUMAN RecName: Full=Sprouty-related, EVH1 domain-containing protein 1; Short=Spred-1; Short=hSpred1

Known Diseases associated with this Protein:
  LEGIUS SYNDROME
  NEUROFIBROMATOSIS 1-LIKE SYNDROME (NFLS)
9
0
7
0
2
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Default View:

WH1 - pfam00568
WH1 - smart00461
EVH1_family - cd00837
EVH1_Ena_VASP-like - cd01207
Sprouty - pfam05210


Swiss-Prot Protein: Q7Z699
Identical to: NP_689807
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EVH1_familycd008371.1e-2911120
EVH1_Ena_VASP-likecd012074.5e-2011124
WH1pfam005681.5e-057120
WH1smart004612.6e-179120
Sproutypfam052102.2e-61332437

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064827Diseasep.TRP31CYSNeurofibromatosis 1-like syndrome (NFLS)
Swiss-ProtVAR_064828Diseasep.VAL44ASPNeurofibromatosis 1-like syndrome (NFLS)
OMIM609291.0001 Diseasep.ARG117TERLEGIUS SYNDROME
OMIM609291.0002 Diseasep.ARG24TERLEGIUS SYNDROME
OMIM609291.0007 Diseasep.ARG262TERLEGIUS SYNDROME
OMIM609291.0005 Diseasep.ARG64TERLEGIUS SYNDROME
OMIM609291.0006 Diseasep.GLN213TERLEGIUS SYNDROME
OMIM609291.0004 Diseasep.GLN215TERLEGIUS SYNDROME
OMIM609291.0008 Diseasep.VAL44ASPLEGIUS SYNDROME



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