TNNI3 mutation Lys58Asn

The Lys58Asn mutation of human cardiac Troponin I

(other names: K58N)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	5
nucleotide change	G>T
nucleotide pos. in gene	2530
UCSC Golden Path position	60359489
amino acid change	Lys>Asn
charge change	-1
codon change	AAG>AAT
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
acggggccttggaacagtggagaccaaactggagggtttagaagggcaga
ggcggttccccacgcctggtctttatcctgaagccccgggtggcgtgcgc
ttccctcccacccctctgcagactctgctgctgcagattgcaaaTcaaga
gctggagcgagaggcggaggagcggcgcggagagaaggggcgcgctctga
gcacccgctgccagccgctggagttggccgggctgggcttcgcggagctg
caggtaccggctcccaaggatgcgaggtttctagtcccggaattcagcag
tacagcctctatcccctcttctgctcggg

**RESTRICTION ENZYME**
no information

disease	none

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)
- Polymorphism; no co-segregation and seen in healthy controls.

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Last modified: April 24, 2006