Project 3 > Mutation Database > MYBPC3

cardiac Myosin-Binding Protein C

• Mutations in MYBPC3
• Exon sequences and primers for MYBPC3

A note on exon numbering in MYBPC3: Literature reports of intronic mutations in MYBPC3 regrettably use two different exon numbering schemes dating from the 1990s, the Niimura et al. sequence (U91629) and the Carrier et al. sequence (Y10129). The Niimura sequence, which this mutation database uses as its standard, presumes the existence of an untranslated "exon 1", hence the translation start codon is found in "exon 2" under this numbering scheme. The Carrier sequence (which has since been adopted as the standard by NCBI) presumes that translation starts from "exon 1". Therefore, the Niimura exon number is always one greater than the Carrier exon number.

Other MYBPC3 links:   LocusLink | dbSNP | OMIM | GeneCards | GDB | GenAtlas | ANGIS

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Last modified: April 24, 2006