MYBPC3 mutation Leu352Pro

The Leu352Pro mutation of human cardiac Myosin-Binding Protein C

(other names: L352P)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	13
nucleotide change	t>c
nucleotide pos. in gene	7435
UCSC Golden Path position	47324372
charge change
codon change	ctc>ccc
transcript change	Missense
translation change

mutated amplimer sequence:
tccccagcccctcttcagctcccttggcccccagtcctgcctggcctggg
acccagagcagctccagctgccccaccagaagggaaggggcagagggaca
ggggtggctacagctccttggtcctgggcccaggaagccccgcccagggg
gctgcagtcttgcccccggccacagcctagactgcgggacacagggactc
gaagctggaggcaccagcagaggaggacgtgtgggagatcctacggcagg
cacccccatctgagtacgagcgcatcgccttccagtacggcgtcactgac
ctgcgcggcatgctaaagaCgctcaagggcatgaggcgcgatgagaagaa
gagcacaggttagcccttcctcagaggggagaggagagggcacaggctag
cccttccctacacaggagaggagagggcataggttagcccttccccacag
ggagaggagagggcacaggttagccccccacctcgtccacatacatggaa
agagcggagtccggc

**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)

citations & disclaimer | contact us

Last modified: April 24, 2006