MYH7 mutation Lys611Asn

The Lys611Asn mutation of human beta-cardiac Myosin Heavy Chain

(other names: K611N)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	16
nucleotide change	G>T
nucleotide pos. in gene	11801
UCSC Golden Path position	22966689
amino acid change	Lys>Asn
charge change	-1
codon change	AAG>AAT
transcript change	missense
translation change	substitution

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

**RESTRICTION ENZYME**
restriction enzyme	EcoR I site gained

disease	HCM

Date this novel mutation was originally posted on this website: 2/17/2004

References and comments

Gorham, Seidman et al., 2004. (this study)

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Last modified: April 24, 2006