Results for the protein: P35523

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ClC_6_like	cd03685	1.2e-19	96	640
ClC_1_like	cd03683		117	592
ClC_3_like	cd03684	5.6e-23	118	590
EriC	cd01031	1.7e-10	124	583
Voltage_gated_ClC	cd00400	9.8e-50	125	567
ClC_euk	cd01036	3.6e-156	125	579
EriC_like	cd01034	8.7e-09	138	579
CBS_pair_EriC_assoc_	cd04591	2.3e-09	753	869
Voltage_CLC	pfam00654	1.3e-82	170	572
CBS	pfam00571	0.0006	605	663

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001599	Disease	p.ALA313THR	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001606	Polymorphism	p.ALA437THR	N/A
Swiss-Prot	VAR_001605	Disease	p.ALA415VAL	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001582	Disease	p.ARG105CYS	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001597	Polymorphism	p.ARG300GLN	N/A
Swiss-Prot	VAR_001600	Disease	p.ARG317GLN	Myotonia congenita, autosomal dominant (MCD)
Swiss-Prot	VAR_001603	Disease	p.ARG338GLN	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001610	Disease	p.ARG496SER	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001584	Disease	p.ASP136GLY	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001611	Disease	p.GLN552ARG	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001596	Disease	p.GLU291LYS	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_036300	Polymorphism	p.GLU548LYS	N/A
Swiss-Prot	VAR_001589	Disease	p.GLY200ARG	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001608	Disease	p.GLY482ARG	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001590	Disease	p.GLY230GLU	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001593	Disease	p.GLY285GLU	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001583	Polymorphism	p.GLY118TRP	N/A
Swiss-Prot	VAR_001612	Disease	p.ILE556ASN	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001595	Disease	p.ILE290MET	Myotonia congenita, autosomal dominant (MCD)
Swiss-Prot	VAR_001602	Disease	p.ILE329THR	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001609	Disease	p.MET485VAL	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001604	Disease	p.PHE413CYS	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001588	Disease	p.PHE167LEU	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001614	Disease	p.PHE708LEU	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001598	Disease	p.PHE307SER	Myotonia congenita, autosomal dominant (MCD)
Swiss-Prot	VAR_001586	Disease	p.PHE161VAL	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001607	Disease	p.PRO480LEU	Myotonia congenita, autosomal dominant (MCD)
Swiss-Prot	VAR_047779	Polymorphism	p.PRO727LEU	N/A
Swiss-Prot	VAR_001585	Disease	p.TYR150CYS	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001592	Disease	p.TYR261CYS	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001594	Disease	p.VAL286ALA	Myotonia congenita, autosomal dominant (MCD)
Swiss-Prot	VAR_001587	Disease	p.VAL165GLY	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001601	Disease	p.VAL327ILE	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001613	Disease	p.VAL563ILE	Myotonia congenita, autosomal recessive (MCR)
Swiss-Prot	VAR_001591	Disease	p.VAL236LEU	Myotonia congenita, autosomal recessive (MCR)

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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