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Results for the Protein: P28329
281185509

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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Carn_acyltransf - pfam00755


Swiss-Prot Protein: P28329
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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 ↕
Swiss-ProtVAR_011676Polymorphismp.ALA392GLYN/A
Swiss-ProtVAR_011675Polymorphismp.ALA120THRN/A
Swiss-ProtVAR_011669Diseasep.ARG420CYSMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_011671Diseasep.ARG482GLYMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_011674Diseasep.ARG560HISMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_046684Polymorphismp.ARG222PRON/A
Swiss-ProtVAR_046687Polymorphismp.ASP400ASNN/A
Swiss-ProtVAR_046683Polymorphismp.ASP47GLUN/A
Swiss-ProtVAR_011670Diseasep.GLU441LYSMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_011668Diseasep.ILE305THRMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_038605Diseasep.ILE336THRMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_046685Polymorphismp.LEU243PHEN/A
Swiss-ProtVAR_011666Diseasep.LEU210PROMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_011667Diseasep.PRO211ALAMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_046686Polymorphismp.PRO299LEUN/A
Swiss-ProtVAR_011672Diseasep.SER498LEUMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_011673Diseasep.VAL506LEUMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA)
Swiss-ProtVAR_046688Polymorphismp.VAL461METN/A



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