TPM1 mutation Gln135Lys

The Gln135Lys mutation of human alpha-Tropomyosin

(other names: Q135K)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	4
nucleotide change	C>A
nucleotide pos. in gene	17819
UCSC Golden Path position	61138843
charge change
codon change	CAA>AAA
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
cacaagccacagcagtgcagtgtgcatttgggaagttcagctctaaatct
tgggttttcttgcttgtctttcttttcagaggcatgaaagtcattgagag
tcgagccAaaaaagatgaagaaaaaatggaaattcaggagatccaactga
aagaggccaagcacattgctgaagatgccgaccgcaaatatgaagaggtc
agatcctggggcccaaagccttgtggacacccagcagtggccttcaggaa
gccagggagcaatgtacagtcttgattcccgagtgaggccat

**RESTRICTION ENZYME**
no information

disease	none

References and comments

dbSNP: rs11558749 (Submitter: CGAP-GAI)

Found in EST database.

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Last modified: April 24, 2006