MYH7 mutation Gln595Arg

The Gln595Arg mutation of human beta-cardiac Myosin Heavy Chain

(other names: Q595R)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	16
nucleotide change	A>G
nucleotide pos. in gene	11752
UCSC Golden Path position	22966738
amino acid change	Gln>Arg
charge change	+1
codon change	CAG>CGG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ataactgtactcagagctgagcctactaccttaacacccaacatggcacc
tccacgagcaagtatattgaccatagagcagaatccatgtccacctgtgt
gaaggacactcagtgatgctctctcctgcttcctcagcccatgggcatca
tgtccatcctggaagaggagtgcatgttccccaaggccaccgacatgacc
ttcaaggccaagctgtttgacaaccacctgggcaaatccgccaacttcca
gaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatcc
actatgccggcatcgtggactacaacatcattggctggctgcGgaagaac
aaggatcctctcaatgagactgtcgtgggcttgtatcagaagtcttccct
caagctgctcagcaccctgtttgccaactatgctggggctgatgcgcgta
agtagggactgaggctcccggtacagaggagcagggattctgccaaggtt
ctgagccaggtcaattgctacaccccaccacttcaatgtcaggttgtacc
ccaaggtttacagactcagtgggatgga

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

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