TNNT2 mutation Ser179Phe

The Ser179Phe mutation of human cardiac Troponin T

(other names: S179F)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	11
nucleotide change	C>T
nucleotide pos. in gene	10739
UCSC Golden Path position	198064115
amino acid change	Ser>Phe
charge change	0
codon change	TCC>TTC
transcript change	missense
translation change	substitution

mutated amplimer sequence:
tgggagctaccctctcagaaagctccttgctgagcggagagaaagctgaa
ctcacccataaagaccacaagcttcagcccagaatcagggtttccaatcc
tttcccctaatttgctttcttcctccctgctgtaaatcaggaagagaggg
ctcgacgagaggaggaggagaacaggaggaaggctgaggatgaggcccgg
aagaagaaggctttgtTcaacatgatgcattttgggggttacatccagaa
ggtaggtagggagcagcaggggttgccaggagatcctagtatagccctga
ggaatgaggtgtccactgcagcaggtagactttaggtcaggtcccaggaa
gagattcccagctgctgtg

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE.
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.
Circulation 2000 Oct 17;102(16):1950-5. (PubMed:11034944)
- homozygote
- Severe disease and sudden death at a young age in a S179F homozygote, mild or no hypertrophy in heterozygotes in one consanguinous family.

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Last modified: April 24, 2006