TNNT2 mutation Glu83Lys

The Glu83Lys mutation of human cardiac Troponin T

(other names: E83K)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	8
nucleotide change	G>A
nucleotide pos. in gene	8442
UCSC Golden Path position	198066412
amino acid change	GluÝLys
charge change
codon change	GAG>AAG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ggatcagggccctgcctgtcctggacaccctcagtccctgggtccagaat
ggggctgatgctgactattcctctctccaacaggtcgttcatgcccaact
tggtgcctcccaagatccccgatggaAagagagtggactttgatgtaagc
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