MYBPC3 mutation His257Pro

The His257Pro mutation of human cardiac Myosin-Binding Protein C

(other names: H257P)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	7
nucleotide change	a>c
nucleotide pos. in gene	5254
UCSC Golden Path position	47326553
charge change
codon change	cac>ccc
transcript change	Missense
translation change

mutated amplimer sequence:
ctggagctcctggtcttatgtgatccgcccgcctcagcctcccaaagtgg
ggattacaggcctgagccaccgcgcccggccactcccagtctcctttaag
ggtgcggagccttgtctcccggcccctggtgtcccctgacgccccgtccc
tccatgcacacaggtctatctgttcgagctgcacatcaccgatgcccagc
ctgccttcactggcagctaccgctgtgaggtgtccaccaaggacaaattt
gactgctccaacttcaatctcactgtccCcggtgagggggccctggtgtc
tgtcctgggctcgggctccccatgggtcctggtctcctacctccttttcc
caacactaaggaggatgcctcgtcccatccagacatgagtgctggccacg
tgcccagtgctgcacacacagggtgtgagagaaaccccaaggcttgcagg
gtaggcgtgggggcttagggctgagtccgggtctcatctgggtgggactc
tgttttatcatcttggtgtcacggctcc

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)
- compound heterozygote, with MYBPC3:Gln76ter
- Compound hets have more severe hypetrophy and earlier onset than single hets (mild or no LVH), in one family.

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Last modified: April 24, 2006