MYL2 mutation Asp166Val

The Asp166Val mutation of human cardiac Regulatory Myosin Light Chain

(other names: D166L)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	7
nucleotide change	A>T
nucleotide pos. in gene	9600
UCSC Golden Path position	109811605
charge change
codon change	GAC>GTC
transcript change
translation change

mutated amplimer sequence:
agatggccgtgcctttatacccccacaccaatcccatccgctggctgtgg
gctgccccagaaagggcatgaccttgggcgagggggccctgcagcagctg
gggaagtccttccccggaggaccctctgagtggcccatgttcccatcccc
caccccccagctatccgtccactcaggccccgcccacagccccccaccct
ccgtctcagttcccctcccctcgtccttagcacgtgttgctggctcattg
caggttgaccagatgttcgccgccttcccccctgacgtgactggcaactt
ggactacaagaacctggtgcacatcatcacccacggagaagagaaggTct
aggagggggctcgctgctgcgccctgggctcgtctttgcagagtggtccc
tgccctcatctctctcccccgagtaccgcctctgtccctaccttgtctgt
tagccatgtggctgccccatttatccacctccatcttctttgcagcctgg
gtggctatgggtacttcgtggccgcacatcctacagttggaaatccatcc
agaggccatgttccaataaacaggaggtcgtgtatttggtcacgacattt
ctctgacaaacagtgccttgtgtaaggaaggcaaaggcagatgagctagt
gacagccttgcagtcattattattgaatcttggtgactctttatttaagg
tagacctttgcagccactcagaactgtttc

**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)

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Last modified: April 24, 2006