TNNT2 mutation Phe77Leu

The Phe77Leu mutation of human cardiac Troponin T

(other names: F77L)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	8
nucleotide change	C>T
nucleotide pos. in gene	8425
UCSC Golden Path position	198066429
amino acid change	Phe>Leu
charge change	0
codon change	CCC>CTC
transcript change	missense
translation change	substitution, conservative

mutated amplimer sequence:
ggatcagggccctgcctgtcctggacaccctcagtccctgggtccagaat
ggggctgatgctgactattcctctctccaacaggtcgttcatgcccaact
tggtgcctcTcaagatccccgatggagagagagtggactttgatgtaagc
ggtggctgtgggttgagtaggcctgggctggggatagtcccaagggccct
cagtgacagagattttgtgaccttgggctggggtagagcataggtgggat
ggggtgcagcaccagccaggctgggtgcccatccatgagcgtggtcctgg
gttcaggccacagttaccccttccctggccaggcgccaggccctgccaga
ggtcttttgcactgcgttggggggtgtctagcccacccatctctcctctg
gactctttggagtggcagcctctgagccgcagcggtccacccacaggaca
tccaccggaagcgcatggagaaggacctgaatgagttgcaggcgctgatc
gaggctcactttgagaacaggaagaaagaggaggagga

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Varnava AM, Elliott PM, Baboonian C, Davison F, Davies MJ, McKenna WJ.
Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.
Circulation. 2001 Sep 18;104(12):1380-4. (PubMed:11560853)
- first reference

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Last modified: April 24, 2006