Project 3 > Mutation Database > TPM1 mutations > Ile172Thr

The Ile172Thr mutation of human alpha-Tropomyosin

(other names:  I172T)

SEQUENCE
exon 5
nucleotide change T>C
nucleotide pos. in gene 19119
UCSC Golden Path position 61140143
amino acid changeIle>Thr
charge change 0
codon change ATT>ACC
transcript change missense
translation change substitution


mutated amplimer sequence:
acccccatgcccttctgttacacaaagcttgcaagacccatggtgtgtgt
gttgtgtcttcctgctgcaggtggcccgtaagctggtcatcaCtgagagc
gacctggaacgtgcagaggagcgggctgagctctcagaagggtaagcggg
cccggcgccaggaggccacgaatggggtgctgcagagcagtgactaaaca
gcatgaccttctggcagctgcacattacctgtttcagctccgggctcctt
ttg


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ.
    Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
    Circulation 2003 Jul 29;108(4):445-51. Epub 2003 Jul 14. (PubMed:12860912)
  2. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.
    Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2004 Nov 2;44(9):1903-10. (PubMed:15519027)
 

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Last modified: April 24, 2006