MYBPC3 mutation Pro756fs

The Pro756fs mutation of human cardiac Myosin-Binding Protein C

(other names: P756fs, DelC756)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	24
nucleotide change	del C
nucleotide pos. in gene	15089
UCSC Golden Path position	47316688
charge change
codon change
transcript change	frameshift
translation change	truncation

mutated amplimer sequence:
tcggtgccacagagatgattttgaactagatgctgacgtggatgcagtct
tcccacaggctgtgttccccccatggacccccgggacatctggctgttgg
cggaggctgcaagggcctctggggtctgacttggatctcaccccaactct
gcacccccccagctgctgtgtgagaccgagggccgggtccgcgtggagac
caccaaggaccgcagcatcttcacggtcgagggggcagagaaggaagatg
agggcgtctacacggtcacagtgaagaacCTgtgggcgaggaccaggtca
acctcacagtcaaggtcatcggtgaggccggccggggtccaagctggaga
acacagaggggcagcc

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA.
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
Am J Hum Genet 1999 Nov;65(5):1308-20. (PubMed:10521296)

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Last modified: April 24, 2006