TNNT2 mutation Phe110Leu

The Phe110Leu mutation of human cardiac Troponin T

(other names: F110L)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	9
nucleotide change	T>C
nucleotide pos. in gene	8825
UCSC Golden Path position	198066029
amino acid change	Phe>Leu
charge change	0
codon change
transcript change
translation change

mutated amplimer sequence:
ggatcagggccctgcctgtcctggacaccctcagtccctgggtccagaat
ggggctgatgctgactattcctctctccaacaggtcgttcatgcccaact
tggtgcctcccaagatccccgatggagagagagtggactttgatgtaagc
ggtggctgtgggttgagtaggcctgggctggggatagtcccaagggccct
cagtgacagagattttgtgaccttgggctggggtagagcataggtgggat
ggggtgcagcaccagccaggctgggtgcccatccatgagcgtggtcctgg
gttcaggccacagttaccccttccctggccaggcgccaggccctgccaga
ggtcttttgcactgcgttggggggtgtctagcccacccatctctcctctg
gactctttggagtggcagcctctgagccgcagcggtccacccacaggaca
tccaccggaagcgcatggagaaggacctgaatgagttgcaggcgctgatc
gaggctcacCttgagaacaggaagaaagaggaggagga

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Torricelli F, Girolami F, Olivotto I, Passerini I, Frusconi S, Vargiu D, Richard P, Cecchi F.
Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.
Am J Cardiol 2003 Dec 1;92(11):1358-62. (PubMed:14636924)

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Last modified: April 24, 2006