TNNI3 mutation Arg74Ser

The Arg74Ser mutation of human cardiac Troponin I

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	5
nucleotide change	c>a
nucleotide pos. in gene	2576
UCSC Golden Path position	60359443
charge change
codon change	CGC>AGC
transcript change
translation change

mutated amplimer sequence:
acggggccttggaacagtggagaccaaactggagggtttagaagggcaga
ggcggttccccacgcctggtctttatcctgaagccccgggtggcgtgcgc
ttccctcccacccctctgcagactctgctgctgcagattgcaaagcaaga
gctggagcgagaggcggaggagcggcgcggagagaaggggAgcgctctga
gcacccgctgccagccgctggagttggccgggctgggcttcgcggagctg
caggtaccggctcccaaggatgcgaggtttctagtcccggaattcagcag
tacagcctctatcccctcttctgctcggg

**RESTRICTION ENZYME**
no information

disease	none
clinical consequences	polymorphism

References and comments

Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T.
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
Nat Genet 1997 Aug;16(4):379-82. (PubMed:9241277)
- benign; no co-segregation and seen in healthy controls.

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Last modified: April 24, 2006