TNNI3 mutation Ser199Gly

The Ser199Gly mutation of human cardiac Troponin I

(other names: S199G)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	8
nucleotide change	A>G
nucleotide pos. in gene	6487
UCSC Golden Path position	60355052
amino acid change	Ser>Gly
charge change	0
codon change	AGT>GGT
transcript change	missense
translation change	substitution

mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggagactggcgcaagaac
atcgatgcactgGgtggaatggagggccgcaagaaaaagtttgagagctg
agccttcctgcctactgcccctgccctgaggagg

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ.
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
J Am Coll Cardiol 2004 Dec 21;44(12):2315-25. (PubMed:15607392)

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Last modified: April 24, 2006