TNNT2 mutation Arg129Lys

The Arg129Lys mutation of human cardiac Troponin T

(other names: R129K)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	10
nucleotide change	G>A
nucleotide pos. in gene	9698
UCSC Golden Path position	198065156
amino acid change	Arg>Lys
charge change	0
codon change	AGA>AAA
transcript change	missense
translation change	substitution, conservative

mutated amplimer sequence:
acgtccgtggagctggttgaaagtggaggcccttggaggccgggcaccat
tgcttcaagactctggaaggaaccctcccccaggaattcccttgccaccc
catgcaggtttctgtacctgcgatgtcaccttctccctatgcacacctgg
gtgggctttgcctcttctccttaggagaAacgtcgggcagagcgggccga
gcagcagcgcatccggaatgagcgggagaaggagcggcagaaccgcctgg
ctgtgagtgacccctagcccaggcccatggaggccccccatgctcccagc
tcctgctgggcccccaggcccctctctattcatcaacatgaatgaaatca
gtcaagagacaatattggccggg

**RESTRICTION ENZYME**
no information

disease	none

References and comments

dbSNP: rs2996496 (Submitter: SC_JCM)

Found in non-disease population sample

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Last modified: April 24, 2006