TPM1 mutation Glu62Gln

The Glu62Gln mutation of human alpha-Tropomyosin

(other names: E62Q)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	2
nucleotide change	G>A
nucleotide pos. in gene	2324
UCSC Golden Path position	61123348
amino acid change	Glu>Gln
charge change	+1
codon change	GAG>CAG
transcript change	missense
translation change	substitution

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

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Jongbloed RJ, Marcelis CL, Doevendans PA, Schmeitz-Mulkens JM, Van Dockum WG, Geraedts JP, Smeets HJ.
Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy.
J Am Coll Cardiol 2003 Mar 19;41(6):981-6. (PubMed:12651045)
- Linked w/ lod=5.16 at theta=0

citations & disclaimer | contact us

Last modified: April 24, 2006