TPM1 mutation Glu192Lys

The Glu192Lys mutation of human alpha-Tropomyosin

(other names: E192K)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	6
nucleotide change	G>A
nucleotide pos. in gene	19951
UCSC Golden Path position	61140975
amino acid change	Glu>Lys
charge change	+2
codon change	GAG>AAG
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
gcagtgttcctggaaaacctaaacattttaatacctgatgatttggctac
tttaaggcagcccttcgtctctaggactcagttttcattttttcccatcc
ctctcctttttctctcctccttcctttggcttgtctcccaccctttctgc
ctctgatcgaaaacattagcaaatgtgccAagcttgaagaagaattgaaa
actgtgacgaacaacttgaagtcactggaggctcaggctgagaaggtagg
ccaggaggatggtgtgggggaaaggcatcttttaagagctgctcaaaaga
ggccctgccagaaagcaacacttacagtagacattttagtaaaatggcaa
tattgtgaggtgatttttggagagttactagataacaaattctttttttt
aactagagaatttattttatgttagggatatgaggcatcaatttaattta
aaccaagtgccaagtggataagttatcttgttgttatcccatgtaaaaca
ataggcaagaaagcagag

**RESTRICTION ENZYME**
no information

disease	HCM

Date this novel mutation was originally posted on this website: 5/31/2002

References and comments

Morita, Seidman et al., 2002. (this study)

Clinical features of individuals in this study having the TPM1:Glu192Lys mutation.
pedigree	sex	height (in.)	weight (lb.)	age of onset	age at exam	NYHA Class	LVWT, mm.	LVED	LVES	LA	EF, %	diagnosis
CHL	F	68	129		25		21	44.4	17.6	31	65	ASD/HCM

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Last modified: April 24, 2006