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Results for the Protein: A6NHR9
187611512

SMHD1_HUMAN RecName: Full=Structural maintenance of chromosomes flexible hinge domain-containing protein 1; AltName: Full=SMC hinge domain-containing protein 1

Known Diseases associated with this Protein:
  FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (FSHD2)
  FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC
9
3
3
3
6
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SMC_hinge - pfam06470


Swiss-Prot Protein: A6NHR9
Identical to: NP_056110
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SMC_hingepfam064705.2e-2017181847

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069068Diseasep.ARG479PROFacioscapulohumeral muscular dystrophy 2 (FSHD2)
Swiss-ProtVAR_069069Diseasep.CYS492ARGFacioscapulohumeral muscular dystrophy 2 (FSHD2)
dbSNPrs9961682 Polymorphismp.ILE960VALN/A
dbSNPrs633422 Polymorphismp.LYS879ASNN/A
Swiss-ProtVAR_069072Diseasep.PHE1554SERFacioscapulohumeral muscular dystrophy 2 (FSHD2)
Swiss-ProtVAR_069070Diseasep.PRO690SERFacioscapulohumeral muscular dystrophy 2 (FSHD2)
Swiss-ProtVAR_069071Diseasep.SER868ASNFacioscapulohumeral muscular dystrophy 2 (FSHD2)
Swiss-ProtVAR_069067Diseasep.TYR353CYSFacioscapulohumeral muscular dystrophy 2 (FSHD2)
dbSNPrs2276092 Polymorphismp.VAL708ILEN/A
OMIM614982.0002 Diseasep.PRO690SERFACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC
OMIM614982.0006 Diseasep.THR527METFACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC
OMIM614982.0005 Diseasep.THR1522THRFACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC



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