TNNI3 mutation Leu144Gln

The Leu144Gln mutation of human cardiac Troponin I

(other names: L144Q)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	7
nucleotide change	T>A
nucleotide pos. in gene	4691
UCSC Golden Path position	60357328
amino acid change	Leu>Gln
charge change	0
codon change	CTG>CAG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
gcctaagccgggaagagactggtaaggcctcggtactggaagacgagata
aggagaataaaaaaggagtgtaggatggaggagttgggtgtgcgggaaat
ggaaggagaagtacccaccccctcgtgtgcccccagattgcagatctgac
tcagaagatctttgaccttcgaggcaagtttaagcggcccacccAgcgga
gagtgaggatctctgcagatgccatgatgcaggcgctgctgggggcccgg
gctaaggagtccctggacctgcgggcccacctcaagcaggtgaagaagga
ggacaccgagaaggtgagtgtgggctaaggccaggaaagaggatgctgag
gggaagggctgtgggtgccaacaaccctaggcctgagggcagatggtgct
tggagttggaggtagaagcagctagtaaggggtcctc

**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
Gomes AV, Liang J, Potter JD.
Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development.
J Biol Chem. 2005 Sep 2;280(35):30909-15. Epub 2005 Jun 15. (PubMed:15961398)

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Last modified: April 24, 2006