Results for the protein: P08034

Results for the Protein: P08034

117688

2705

GJB1

NCBI, UniProt

CXB1_HUMAN RecName: Full=Gap junction beta-1 protein; AltName: Full=Connexin-32; Short=Cx32; AltName: Full=GAP junction 28 kDa liver protein

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
  CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 (CMTX1)
  DEJERINE-SOTTAS NEUROPATHY, INCLUDED
  DEJERINE-SOTTAS SYNDROME (DSS)

201

2

15

0

188

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Default View: CNX - smart00037 Connexin_CCC - pfam10582	Swiss-Prot Protein: P08034 Identical to: NP_000157, NP_001091111 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Connexin_CCC	pfam10582	1.7e-44	145	212

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_029931	Disease	p.ALA147ASP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002097	Disease	p.ALA161PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002034	Disease	p.ALA39PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029906	Disease	p.ALA40THR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002035	Disease	p.ALA39VAL	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002036	Disease	p.ALA40VAL	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002109	Disease	p.ARG183CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002130	Disease	p.ARG219CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002133	Disease	p.ARG230CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029956	Disease	p.ARG264CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029929	Disease	p.ARG142GLN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002015	Disease	p.ARG15GLN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002098	Disease	p.ARG164GLN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029954	Disease	p.ARG215GLN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002022	Disease	p.ARG22GLN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002052	Disease	p.ARG75GLN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002085	Disease	p.ARG142GLU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002020	Disease	p.ARG22GLY	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002132	Disease	p.ARG220GLY	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002110	Disease	p.ARG183HIS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002131	Disease	p.ARG219HIS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002136	Disease	p.ARG238HIS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002134	Disease	p.ARG230LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002021	Disease	p.ARG22PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002051	Disease	p.ARG75PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002111	Disease	p.ARG183SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002076	Disease	p.ARG107TRP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002086	Disease	p.ARG142TRP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002016	Disease	p.ARG15TRP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002099	Disease	p.ARG164TRP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002129	Disease	p.ARG215TRP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002053	Disease	p.ARG75TRP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002103	Polymorphism	p.ASN175ASP	N/A
Swiss-Prot	VAR_029949	Disease	p.ASN205ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002014	Disease	p.ASN14LYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002126	Disease	p.ASN205SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002104	Disease	p.ASP178TYR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_021612	Disease	p.CYS168ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002102	Disease	p.CYS173ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002105	Disease	p.CYS179ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002123	Disease	p.CYS201ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029957	Disease	p.CYS280GLY	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002046	Disease	p.CYS60PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029912	Disease	p.CYS64PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002042	Disease	p.CYS53SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002048	Disease	p.CYS64SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029936	Disease	p.CYS168TYR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029947	Disease	p.CYS201TYR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002055	Disease	p.GLN80ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029910	Disease	p.GLN57HIS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002074	Disease	p.GLU102GLY	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029950	Disease	p.GLU208GLY	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029930	Disease	p.GLU146LYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002114	Disease	p.GLU186LYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002127	Disease	p.GLU208LYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002037	Disease	p.GLU41LYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002122	Disease	p.GLY199ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029911	Disease	p.GLY59ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029935	Disease	p.GLY159ASP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002019	Disease	p.GLY21ASP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002045	Disease	p.GLY59CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002011	Disease	p.GLY12SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002095	Disease	p.GLY159SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029917	Disease	p.HIS94ASP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002070	Disease	p.HIS94GLN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002017	Disease	p.HIS16PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002073	Disease	p.HIS100TYR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029923	Disease	p.HIS126TYR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002071	Disease	p.HIS94TYR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002124	Disease	p.ILE203ASN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029901	Disease	p.ILE28ASN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002029	Disease	p.ILE30ASN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029924	Disease	p.ILE127MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029925	Disease	p.ILE127SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002018	Disease	p.ILE20SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002026	Disease	p.ILE28THR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029902	Disease	p.ILE30THR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029953	Disease	p.ILE213VAL	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002090	Disease	p.LEU156ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002068	Disease	p.LEU90HIS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029955	Disease	p.LEU239ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002089	Disease	p.LEU156PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002125	Disease	p.LEU204PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002024	Disease	p.LEU25PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002043	Disease	p.LEU56PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002056	Disease	p.LEU81PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029920	Disease	p.LEU108PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029927	Disease	p.LEU131PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029899	Disease	p.LEU25PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002057	Disease	p.LEU83PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002067	Disease	p.LEU89PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029896	Disease	p.LEU9TRP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029948	Disease	p.LEU204VAL	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029915	Disease	p.LEU90VAL	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002078	Disease	p.LYS124ASN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002075	Disease	p.LYS103GLU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002115	Disease	p.LYS187GLU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029919	Disease	p.LYS104THR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029903	Disease	p.MET34ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029904	Disease	p.MET34LYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002030	Disease	p.MET34THR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002120	Disease	p.MET194VAL	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002031	Disease	p.MET34VAL	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002069	Disease	p.MET93VAL	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002119	Disease	p.PHE193CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002135	Disease	p.PHE235CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002088	Disease	p.PHE149ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002084	Disease	p.PHE141LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002106	Disease	p.PHE180LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029946	Disease	p.PHE193LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002028	Disease	p.PHE29LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029913	Disease	p.PHE69LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029934	Disease	p.PHE153SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029941	Disease	p.PHE180SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029932	Disease	p.PHE149VAL	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002092	Disease	p.PRO158ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029937	Disease	p.PRO172ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029914	Disease	p.PRO70ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002064	Disease	p.PRO87ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002093	Disease	p.PRO158ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029938	Disease	p.PRO172ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002112	Disease	p.PRO184ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002044	Polymorphism	p.PRO58ARG	N/A
Swiss-Prot	VAR_002100	Disease	p.PRO172LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029943	Disease	p.PRO184LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002065	Disease	p.PRO87LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002094	Disease	p.PRO158SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002101	Disease	p.PRO172SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002066	Disease	p.PRO87SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029928	Disease	p.SER138ASN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002059	Disease	p.SER85CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002010	Disease	p.SER11GLY	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002025	Disease	p.SER26LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002121	Disease	p.SER198PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002060	Disease	p.SER85PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002079	Disease	p.SER128PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029907	Disease	p.SER49PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002041	Disease	p.SER50PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002108	Disease	p.SER182THR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029900	Disease	p.SER26TRP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002040	Disease	p.SER49TYR	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029944	Disease	p.THR191ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029908	Disease	p.THR55ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002061	Disease	p.THR86ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029909	Disease	p.THR55ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002062	Disease	p.THR86ASN	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029926	Disease	p.THR130ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_008137	Disease	p.THR55ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029895	Disease	p.THR8ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002009	Disease	p.THR8PRO	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002063	Disease	p.THR86SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002081	Disease	p.TRP133ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002006	Disease	p.TRP3ARG	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002080	Disease	p.TRP133CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029898	Disease	p.TRP24CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002039	Disease	p.TRP44LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002007	Disease	p.TRP3SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002054	Disease	p.TRP77SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002082	Disease	p.TYR135CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002091	Disease	p.TYR157CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002049	Disease	p.TYR65CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002008	Disease	p.TYR7CYS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002096	Disease	p.TYR160HIS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029952	Disease	p.TYR211HIS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_012313	Disease	p.TYR65HIS	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029933	Disease	p.TYR151SER	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_021611	Disease	p.VAL136ALA	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_029939	Disease	p.VAL177ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029942	Disease	p.VAL181ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002023	Disease	p.VAL23ALA	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029922	Disease	p.VAL125ASP	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_008138	Disease	p.VAL120GLU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029940	Disease	p.VAL177GLU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002116	Disease	p.VAL189GLY	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002117	Disease	p.VAL189ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002047	Disease	p.VAL63ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002058	Disease	p.VAL84ILE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002012	Disease	p.VAL13LEU	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002013	Disease	p.VAL13MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002083	Disease	p.VAL139MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002107	Disease	p.VAL181MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002032	Disease	p.VAL35MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029905	Disease	p.VAL37MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002033	Disease	p.VAL38MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002038	Disease	p.VAL43MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029916	Disease	p.VAL91MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_002072	Disease	p.VAL95MET	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
Swiss-Prot	VAR_029945	Disease	p.VAL192PHE	Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
OMIM	304040.0005	Disease	p.ARG220TER	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0001	Disease	p.ARG142TRP	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0012	Disease	p.ASN205SER	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0006	Disease	p.ILE30ASN	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0007	Disease	p.LEU156ARG	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0020	Disease	p.PHE235CYS	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0002	Disease	p.PRO172SER	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0014	Disease	p.SER85CYS	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0016	Disease	p.THR55ILE	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0004	Disease	p.TRP133ARG	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0008	Disease	p.TYR65CYS	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0021	Disease	p.VAL136ALA	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1\|\|DEJERINE-SOTTAS NEUROPATHY, INCLUDED
OMIM	304040.0009	Disease	p.VAL13LEU	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0003	Disease	p.VAL139MET	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
OMIM	304040.0011	Disease	p.VAL95MET	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1

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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