TNNI3 mutation Lys183Glu

The Lys183Glu mutation of human cardiac Troponin I

(other names: K183E)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	7
nucleotide change	A>G
nucleotide pos. in gene	4807
UCSC Golden Path position	60357212
amino acid change	Lys>Glu
charge change	-2
codon change	AAG>GAG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
gcctaagccgggaagagactggtaaggcctcggtactggaagacgagata
aggagaataaaaaaggagtgtaggatggaggagttgggtgtgcgggaaat
ggaaggagaagtacccaccccctcgtgtgcccccagattgcagatctgac
tcagaagatctttgaccttcgaggcaagtttaagcggcccaccctgcgga
gagtgaggatctctgcagatgccatgatgcaggcgctgctgggggcccgg
gctaaggagtccctggacctgcgggcccacctcaagcaggtgaagaagga
ggacaccgagGaggtgagtgtgggctaaggccaggaaagaggatgctgag
gggaagggctgtgggtgccaacaaccctaggcctgagggcagatggtgct
tggagttggaggtagaagcagctagtaaggggtcctc

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

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)

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Last modified: April 24, 2006