Results for the protein: Q14683

Results for the Protein: Q14683

29336622

8243

SMC1A

NCBI, UniProt

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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Default View: SMC_hinge - pfam06470	Swiss-Prot Protein: Q14683 Identical to: NP_006297 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_062792	Disease	p.ARG496CYS	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062800	Disease	p.ARG1049GLN	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062791	Disease	p.ARG398GLN	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_064542	Disease	p.ARG711GLN	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062798	Disease	p.ARG790GLN	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062795	Disease	p.ARG693GLY	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062799	Disease	p.ARG816GLY	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062788	Disease	p.ARG196HIS	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062793	Disease	p.ARG496HIS	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062803	Disease	p.ARG1123TRP	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062796	Disease	p.ARG711TRP	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062797	Disease	p.CYS781PHE	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_026529	Disease	p.GLU493ALA	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062787	Disease	p.GLU141LYS	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_064543	Disease	p.ILE784THR	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062802	Disease	p.PHE1122LEU	Cornelia de Lange syndrome 2 (CDLS2)
Swiss-Prot	VAR_062786	Disease	p.PHE133VAL	Cornelia de Lange syndrome 2 (CDLS2)
dbSNP	rs34530151	Polymorphism	p.THR28PRO	N/A
Swiss-Prot	VAR_062801	Disease	p.TYR1085CYS	Cornelia de Lange syndrome 2 (CDLS2)
OMIM	300040.0004	Disease	p.ARG496HIS	CORNELIA DE LANGE SYNDROME 2
OMIM	300040.0002	Disease	p.GLU493ALA	CORNELIA DE LANGE SYNDROME 2
OMIM	300040.0005	Disease	p.ILE784THR	CORNELIA DE LANGE SYNDROME 2

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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