TNNI3 mutation Pro82Ser

The Pro82Ser mutation of human cardiac Troponin I

(other names: P82S)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	5
nucleotide change	C>T
nucleotide pos. in gene	2600
UCSC Golden Path position	60359419
amino acid change	Pro>Ser
charge change	0
codon change	CCG>TCG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
acggggccttggaacagtggagaccaaactggagggtttagaagggcaga
ggcggttccccacgcctggtctttatcctgaagccccgggtggcgtgcgc
ttccctcccacccctctgcagactctgctgctgcagattgcaaagcaaga
gctggagcgagaggcggaggagcggcgcggagagaaggggcgcgctctga
gcacccgctgccagTcgctggagttggccgggctgggcttcgcggagctg
caggtaccggctcccaaggatgcgaggtttctagtcccggaattcagcag
tacagcctctatcccctcttctgctcggg

**RESTRICTION ENZYME**
restriction enzyme	Bsr I site gained

disease	uncertain
clinical consequences	elderly-onset

References and comments

Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE.
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
Circulation 2002 Jan 29;105(4):446-51. (PubMed:11815426)
- Not seen in 170 normal control samples. Elderly-onset population.
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)
- Benign; found in 3% of 150 healthy population-matched (Afro-Caribbean) control chromosomes.

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Last modified: April 24, 2006