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Results for the Protein: NP_065574
188595670

choline O-acetyltransferase isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
9
3
9
3
0
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Carn_acyltransf - pfam00755


RefSeq Protein: NP_065574
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Carn_acyltransfpfam00755130720

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3810950 Polymorphismp.ALA120THRN/A
dbSNPrs8178990 Polymorphismp.LEU243PHEN/A
dbSNPrs4838544 Polymorphismp.VAL461METN/A
OMIM118490.0010 Diseasep.ARG420CYSMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0005 Diseasep.ARG482GLYMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0006 Diseasep.ARG560HISMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0003 Diseasep.GLU441LYSMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0009 Diseasep.ILE305THRMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0007 Diseasep.LEU210PROMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0002 Diseasep.PRO211ALAMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0008 Diseasep.SER498LEUMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
OMIM118490.0004 Diseasep.VAL506LEUMYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA



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