MYBPC3 mutation Val342Asp

The Val342Asp mutation of human cardiac Myosin-Binding Protein C

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	13
nucleotide change	T>A
nucleotide pos. in gene	7408
UCSC Golden Path position	47324399
charge change
codon change
transcript change
translation change

mutated amplimer sequence:
tccccagcccctcttcagctcccttggcccccagtcctgcctggcctggg
acccagagcagctccagctgccccaccagaagggaaggggcagagggaca
ggggtggctacagctccttggtcctgggcccaggaagccccgcccagggg
gctgcagtcttgcccccggccacagcctagactgcgggacacagggactc
gaagctggaggcaccagcagaggaggacgtgtgggagatcctacggcagg
cacccccatctgagtacgagcgcatcgccttccagtacggcgAcactgac
ctgcgcggcatgctaaagaggctcaagggcatgaggcgcgatgagaagaa
gagcacaggttagcccttcctcagaggggagaggagagggcacaggctag
cccttccctacacaggagaggagagggcataggttagcccttccccacag
ggagaggagagggcacaggttagccccccacctcgtccacatacatggaa
agagcggagtccggc

**RESTRICTION ENZYME**
no information

disease	HCM

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)

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Last modified: April 24, 2006