TPM1 mutation Glu54Lys

The Glu54Lys mutation of human alpha-Tropomyosin

(other names: E54K)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	2
nucleotide change	G>A
nucleotide pos. in gene	2300
UCSC Golden Path position	61123324
amino acid change	Glu>Lys
charge change	+2
codon change	GAA>AAA
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
ctgtctttccctctgtctctcccgctgtccctgtccttctggttctgtgc
acccacacccctccccttcgggatcacgctgcctgctgcacccccctccc
tccctgtaccccctggccaactcccagctggaagatgagctggtgtcact
gcaaaagaaactcaagggcaccAaagatgaactggacaaatactctgagg
ctctcaaagatgcccaggagaagctggagctggcagagaaaaaggccacc
gatgtaagtgcacgctcacactgcttccctcacctcttgcctgcgtggcc
actccggggtcaccacagggctggagagcaatgaaggaagtttacctttt
cctgctggacacctgca

**RESTRICTION ENZYME**
None

disease	DCM

References and comments

Olson TM, Kishimoto NY, Whitby FG, Michels VV.
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.
J Mol Cell Cardiol 2001 Apr;33(4):723-32. (PubMed:11273725)

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Last modified: April 24, 2006