Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism.
Perrot
Andreas
A
Posch
Maximilian G
MG
Osterziel
Karl Josef
KJ
D002311:Cardiomyopathy, Dilated / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics; D015331:Cohort Studies; D064211:Connectin; D005787:Gene Frequency; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D044469:Racial Groups; D017384:Sequence Deletion
D064211:Connectin; D009124:Muscle Proteins; C577292:TCAP protein, human