Results for the protein: P28329

Results for the Protein: P28329

281185509

1103

CHAT

NCBI, UniProt

CLAT_HUMAN RecName: Full=Choline O-acetyltransferase; Short=CHOACTase; Short=ChAT; Short=Choline acetylase

Known Diseases associated with this Protein:
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA (CMSEA)

10

8

0

0

18

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Default View: Carn_acyltransf - pfam00755	Swiss-Prot Protein: P28329 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_011676	Polymorphism	p.ALA392GLY	N/A
Swiss-Prot	VAR_011675	Polymorphism	p.ALA120THR	N/A
Swiss-Prot	VAR_011669	Disease	p.ARG420CYS	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_011671	Disease	p.ARG482GLY	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_011674	Disease	p.ARG560HIS	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_046684	Polymorphism	p.ARG222PRO	N/A
Swiss-Prot	VAR_046687	Polymorphism	p.ASP400ASN	N/A
Swiss-Prot	VAR_046683	Polymorphism	p.ASP47GLU	N/A
Swiss-Prot	VAR_011670	Disease	p.GLU441LYS	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_011668	Disease	p.ILE305THR	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_038605	Disease	p.ILE336THR	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_046685	Polymorphism	p.LEU243PHE	N/A
Swiss-Prot	VAR_011666	Disease	p.LEU210PRO	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_011667	Disease	p.PRO211ALA	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_046686	Polymorphism	p.PRO299LEU	N/A
Swiss-Prot	VAR_011672	Disease	p.SER498LEU	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_011673	Disease	p.VAL506LEU	Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-Prot	VAR_046688	Polymorphism	p.VAL461MET	N/A

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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