MYBPC3 mutation Pro677Leu

The Pro677Leu mutation of human cardiac Myosin-Binding Protein C

(other names: P677L)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	22
nucleotide change	c>t
nucleotide pos. in gene	13962
UCSC Golden Path position	47317815
amino acid change	Pro>Leu
charge change	0
codon change	cct>ctt
transcript change	missense
translation change	substitution

mutated amplimer sequence:
tcctcctggctctcccgtttctctgaactacattgtgtcttctgcagaac
ctcccaagatccacctggactgcccaggccgcataccagacaccattgtg
gttgtagctggaaataagctacgtctggacgtccctatctctggggaccT
tgctcccactgtgatctggcagaaggctatcacgcaggtactgtgggtcc
ctcctcagtctccccatctataagatgggtgtgtggaaccagccaagtgc
taggacctgctgcacaccccacccacatgtgcacgccctgctgttggcta
ccccgtgggagagactggtcagggggcaggcaaggtgggcagtgtgggtc
agggggtggaagaagcagcagaggggcgc

**RESTRICTION ENZYME**
no information

disease	HCM

Date this novel mutation was originally posted on this website: 4/15/2005

References and comments

Merk, Seidman et al., 2005. (this study)

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Last modified: April 24, 2006