Results for the protein: O43556

Results for the Protein: O43556

251757514

8910

SGCE

NCBI, UniProt

SGCE_HUMAN RecName: Full=Epsilon-sarcoglycan; Short=Epsilon-SG

Known Diseases associated with this Protein:
DYSTONIA 11 (DYT11)
MYOCLONUS-DYSTONIA SYNDROME

17

2

4

0

15

Tips:

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Default View: Sarcoglycan_2 - pfam05510 CADG - smart00736	Swiss-Prot Protein: O43556 Identical to: NP_003910 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CADG	smart00736	6.5e-18	51	156

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058088	Polymorphism	p.ASN49SER	N/A
Swiss-Prot	VAR_066743	Disease	p.CYS271TYR	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066737	Disease	p.GLY112ARG	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066734	Disease	p.HIS60ARG	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066733	Disease	p.HIS60PRO	Dystonia 11 (DYT11)
Swiss-Prot	VAR_026750	Disease	p.LEU196ARG	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066741	Disease	p.LEU184PRO	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066739	Disease	p.LEU175SER	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066735	Disease	p.MET92THR	Dystonia 11 (DYT11)
Swiss-Prot	VAR_058089	Polymorphism	p.PRO399HIS	N/A
Swiss-Prot	VAR_066740	Disease	p.SER177CYS	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066732	Disease	p.THR36ARG	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066742	Disease	p.TRP270ARG	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066736	Disease	p.TRP100GLY	Dystonia 11 (DYT11)
Swiss-Prot	VAR_066738	Disease	p.TYR115CYS	Dystonia 11 (DYT11)
OMIM	604149.0002	Disease	p.ARG102TER	MYOCLONUS-DYSTONIA SYNDROME
OMIM	604149.0009	Disease	p.ARG372TER	MYOCLONUS-DYSTONIA SYNDROME
OMIM	604149.0001	Disease	p.ARG97TER	MYOCLONUS-DYSTONIA SYNDROME
OMIM	604149.0006	Disease	p.LEU196ARG	MYOCLONUS-DYSTONIA SYNDROME

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