Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_066265
188595672

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
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Carn_acyltransf - pfam00755


RefSeq Protein: NP_066265
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Carn_acyltransfpfam0075512602

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3810950 Polymorphismp.ALA2THRN/A
dbSNPrs8178990 Polymorphismp.LEU125PHEN/A
dbSNPrs4838544 Polymorphismp.VAL343METN/A
OMIM118490.0010 Diseasep.ARG302CYSMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0005 Diseasep.ARG364GLYMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0006 Diseasep.ARG442HISMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0003 Diseasep.GLU323LYSMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0009 Diseasep.ILE187THRMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0007 Diseasep.LEU92PROMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0002 Diseasep.PRO93ALAMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0008 Diseasep.SER380LEUMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0004 Diseasep.VAL388LEUMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258