Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001136405
218931224

choline O-acetyltransferase isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
9
4
9
4
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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Carn_acyltransfpfam0075548638

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3810950 Polymorphismp.ALA38THRN/A
dbSNPrs1880676 Polymorphismp.ASP7ASNN/A
dbSNPrs8178990 Polymorphismp.LEU161PHEN/A
dbSNPrs4838544 Polymorphismp.VAL379METN/A
OMIM118490.0010 Diseasep.ARG338CYSMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0005 Diseasep.ARG400GLYMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0006 Diseasep.ARG478HISMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0003 Diseasep.GLU359LYSMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0009 Diseasep.ILE223THRMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0007 Diseasep.LEU128PROMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0002 Diseasep.PRO129ALAMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0008 Diseasep.SER416LEUMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0004 Diseasep.VAL424LEUMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA



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