TNNI3 mutation Asp190His

The Asp190His mutation of human cardiac Troponin I

(other names: D190H)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	8
nucleotide change	G>C
nucleotide pos. in gene	6460
UCSC Golden Path position	60355079
amino acid change	Asp>His
charge change	+2
codon change	GAC>CAC
transcript change	missense
translation change	substitution

mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggaCactggcgcaagaac
atcgatgcactgagtggaatggagggccgcaagaaaaagtttgagagctg
agccttcctgcctactgcccctgccctgaggagg

**RESTRICTION ENZYME**
no information

disease	Restrictive CM

References and comments

Mogensen J, Kubo T, Duque M, Uribe W, Shaw A, Murphy R, Gimeno JR, Elliott P, McKenna WJ.
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
J Clin Invest 2003 Jan;111(2):209-16. (PubMed:12531876)
- Restrictive CM, can be apical HCM

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Last modified: April 24, 2006