TPM1 mutation Met281Thr

The Met281Thr mutation of human alpha-Tropomyosin

(other names: M281T)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	9
nucleotide change	T>C
nucleotide pos. in gene	22361
UCSC Golden Path position	61143385
amino acid change	Met>Thr
charge change	0
codon change	ATG>ACG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
caaccccttcatgcattgcccttttcttgctgctgtgttgggatggtgcg
cgcaccaccctcactcaccctccatttcttgatcactctccatgttcttg
cacctctgccttccacttcctggtcatagacgagctgtacgctcagaaac
tgaagtacaaagccatcagcgaggagctggaccacgctctcaacgataCg
acttccatgtaaacgttcatccactctgcctgcttacaccctgccctcat
gctaatgtaataaactcaccaccatgccttccttgctccctaatctccat
ctttgcactcttgtgttcaccctttttgtcataacctagaatagtcattg
ttttttcactttctgctaatataaaggccaattagattaagtctgtctat
acaaaccattttcttttcagaatccgtttattttgtaaacgctgaactag
agca

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ.
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
Circulation 2003 Jul 29;108(4):445-51. Epub 2003 Jul 14. (PubMed:12860912)

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Last modified: April 24, 2006