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Results for the Protein: Q14683
29336622

SMC1A_HUMAN RecName: Full=Structural maintenance of chromosomes protein 1A; Short=SMC protein 1A; Short=SMC-1-alpha; Short=SMC-1A; AltName: Full=Sb1.8

Known Diseases associated with this Protein:
  CORNELIA DE LANGE SYNDROME 2
  CORNELIA DE LANGE SYNDROME 2 (CDLS2)
21
1
3
1
18
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SMC_hinge - pfam06470


Swiss-Prot Protein: Q14683
Identical to: NP_006297
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SMC_hingepfam064701.6e-37512629

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062792Diseasep.ARG496CYSCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062800Diseasep.ARG1049GLNCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062791Diseasep.ARG398GLNCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_064542Diseasep.ARG711GLNCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062798Diseasep.ARG790GLNCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062795Diseasep.ARG693GLYCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062799Diseasep.ARG816GLYCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062788Diseasep.ARG196HISCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062793Diseasep.ARG496HISCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062803Diseasep.ARG1123TRPCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062796Diseasep.ARG711TRPCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062797Diseasep.CYS781PHECornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_026529Diseasep.GLU493ALACornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062787Diseasep.GLU141LYSCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_064543Diseasep.ILE784THRCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062802Diseasep.PHE1122LEUCornelia de Lange syndrome 2 (CDLS2)
Swiss-ProtVAR_062786Diseasep.PHE133VALCornelia de Lange syndrome 2 (CDLS2)
dbSNPrs34530151 Polymorphismp.THR28PRON/A
Swiss-ProtVAR_062801Diseasep.TYR1085CYSCornelia de Lange syndrome 2 (CDLS2)
OMIM300040.0004 Diseasep.ARG496HISCORNELIA DE LANGE SYNDROME 2
OMIM300040.0002 Diseasep.GLU493ALACORNELIA DE LANGE SYNDROME 2
OMIM300040.0005 Diseasep.ILE784THRCORNELIA DE LANGE SYNDROME 2



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