TNNT2 mutation Arg113Trp

The Arg113Trp mutation of human cardiac Troponin T

(other names: Arg131Trp, R131W)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	9
nucleotide change	A>T
nucleotide pos. in gene	8834
UCSC Golden Path position	198066020
charge change
codon change
transcript change
translation change

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

**RESTRICTION ENZYME**
no information

disease	DCM

References and comments

Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ.
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
J Am Coll Cardiol 2004 Nov 16;44(10):2033-40. (PubMed:15542288)

citations & disclaimer | contact us

Last modified: April 24, 2006