MYH7 mutation Val606Leu

The Val606Leu mutation of human beta-cardiac Myosin Heavy Chain

(other names: V606L)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	16
nucleotide change	G>C
nucleotide pos. in gene	11784
UCSC Golden Path position	22966706
amino acid change	ValÝLeu
charge change
codon change	GTG>CTG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ataactgtactcagagctgagcctactaccttaacacccaacatggcacc
tccacgagcaagtatattgaccatagagcagaatccatgtccacctgtgt
gaaggacactcagtgatgctctctcctgcttcctcagcccatgggcatca
tgtccatcctggaagaggagtgcatgttccccaaggccaccgacatgacc
ttcaaggccaagctgtttgacaaccacctgggcaaatccgccaacttcca
gaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatcc
actatgccggcatcgtggactacaacatcattggctggctgcagaagaac
aaggatcctctcaatgagactgtcCtgggcttgtatcagaagtcttccct
caagctgctcagcaccctgtttgccaactatgctggggctgatgcgcgta
agtagggactgaggctcccggtacagaggagcagggattctgccaaggtt
ctgagccaggtcaattgctacaccccaccacttcaatgtcaggttgtacc
ccaaggtttacagactcagtgggatgga

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Andersen et al., 1998. (abstract)
Waldmuller S, Freund P, Mauch S, Toder R, Vosberg HP.
Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.
Hum Mutat 2002 May;19(5):560-9. (PubMed:11968089)

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Last modified: April 24, 2006