Project 3 > Mutation Database > TNNT2 mutations > Val85Leu

The Val85Leu mutation of human cardiac Troponin T

(other names:  V85L)

SEQUENCE
  8
nucleotide change unspecified
nucleotide pos. in gene 8448
UCSC Golden Path position 198066406
amino acid changeVal>Leu
charge change 0
codon change  
transcript change missense
translation change substitution, conservative


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Konno T, Shimizu M, Ino H, Fujino N, Hayashi K, Uchiyama K, Kaneda T, Inoue M, Masuda E, Mabuchi H.
    Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.
    J Intern Med. 2005 Sep;258(3):216-24. (PubMed:16115294)
 

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Last modified: April 24, 2006