Results for the protein: NP

Results for the Protein: NP_066266

188595684

1103

CHAT

NCBI

choline O-acetyltransferase isoform 1 [Homo sapiens]

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

9

3

9

3

0

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Default View: Carn_acyltransf - pfam00755	RefSeq Protein: NP_066266 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3810950	Polymorphism	p.ALA2THR	N/A
dbSNP	rs8178990	Polymorphism	p.LEU125PHE	N/A
dbSNP	rs4838544	Polymorphism	p.VAL343MET	N/A
OMIM	118490.0010	Disease	p.ARG302CYS	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM	118490.0005	Disease	p.ARG364GLY	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM	118490.0006	Disease	p.ARG442HIS	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM	118490.0003	Disease	p.GLU323LYS	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM	118490.0009	Disease	p.ILE187THR	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM	118490.0007	Disease	p.LEU92PRO	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM	118490.0002	Disease	p.PRO93ALA	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM	118490.0008	Disease	p.SER380LEU	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM	118490.0004	Disease	p.VAL388LEU	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA

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