TNNI3 mutation Leu198Val

The Leu198Val mutation of human cardiac Troponin I

(other names: L198V)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	8
nucleotide change	C>G
nucleotide pos. in gene	6484
UCSC Golden Path position	60355055
amino acid change	Leu>Val
charge change	0
codon change	CTG>GTG
transcript change	missense
translation change	substitution, conservative

mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggagactggcgcaagaac
atcgatgcaGtgagtggaatggagggccgcaagaaaaagtttgagagctg
agccttcctgcctactgcccctgccctgaggagg

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Merk, Seidman et al., 2005. (this study)

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Last modified: April 24, 2006