TNNT2 mutation Arg94Cys

The Arg94Cys mutation of human cardiac Troponin T

(other names: R94C)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	9
nucleotide change	T>C
nucleotide pos. in gene	8779
UCSC Golden Path position	198066075
amino acid change	ArgÝCys
charge change
codon change	CGC>TGC
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ggatcagggccctgcctgtcctggacaccctcagtccctgggtccagaat
ggggctgatgctgactattcctctctccaacaggtcgttcatgcccaact
tggtgcctcccaagatccccgatggagagagagtggactttgatgtaagc
ggtggctgtgggttgagtaggcctgggctggggatagtcccaagggccct
cagtgacagagattttgtgaccttgggctggggtagagcataggtgggat
ggggtgcagcaccagccaggctgggtgcccatccatgagcgtggtcctgg
gttcaggccacagttaccccttccctggccaggcgccaggccctgccaga
ggtcttttgcactgcgttggggggtgtctagcccacccatctctcctctg
gactctttggagtggcagcctctgagccgcagcggtccacccacaggaca
tccaccggaagcgCatggagaaggacctgaatgagttgcaggcgctgatc
gaggctcactttgagaacaggaagaaagaggaggagga

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Mogensen J, Bahl A, Kubo T, Elanko N, Taylor R, McKenna WJ.
Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy.
J Med Genet 2003 May;40(5):e59. (PubMed:12746413)

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Last modified: April 24, 2006