MYBPC3 mutation Ala627Val

The Ala627Val mutation of human cardiac Myosin-Binding Protein C

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	20
nucleotide change	C>T
nucleotide pos. in gene	12495
UCSC Golden Path position	47319282
charge change
codon change
transcript change
translation change

mutated amplimer sequence:
agaataccaacaagccaggacaaggtgagggcctcctgggaccctggctg
gggtatctggcaaggccaggggtgtgtggcccagtggggtcccctgagcc
actgctcccctgcagggtccacaaactgaccattgacgacgtcacacctg
ccgacgaggctgactacagctttgtgcccgagggcttcgcctgcaacctg
tcagTcaagctccacttcatgggtgagcctgctccagggtagggtgggtc
ggggcagtggggccaggagcccctgtcactgggccctgcctttgcccccg
tgctacttgctcttccttctcttgcagaggtcaagattgacttcgtaccc
aggcagggtaagtcttggggcccctgagtcttggttctgctcactttccc
gc

**RESTRICTION ENZYME**
no information

disease	HCM
clinical consequences	severe HCM in homozygous patient, moderate or no disease in heterozygotes.

References and comments

Garcia-Castro M, Reguero JR, Alvarez V, Batalla A, Soto MI, Albaladejo V, Coto E.
Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.
Int J Cardiol 2005 Jul 20;102(3):501-7. Epub 2004 Sep 23. (PubMed:16004897)
- homozygote
- Silent in heterozygotes, but homozygote has severe HCM.

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Last modified: April 24, 2006