Project 3 > Mutation Database > TNNT2 mutations > Asn269Tyr

The Asn269Tyr mutation of human cardiac Troponin T

(other names:  N269Y)

SEQUENCE
exon 15
nucleotide change A>T
nucleotide pos. in gene 14430
UCSC Golden Path position 198060424
amino acid changeAsn>Tyr
charge change 0
codon change AAC>TAC
transcript change missense
translation change substitution


mutated amplimer sequence:
gcccctcctgacccttaactatcctaacccctcctactcttccatgctcc
tccttctcctcctgcactgctgcactcagcccccttctccccatccccag
gccacctgggacctgagccagtcagctccagcgttgctctttgtccttcc
cacttttcttgcagatcaatgttctccgaaacaggatcTacgataaccag
aaagtgtaagtgtctgaggtcattctcgcctagccctccccctgccccct
ccttccctaccttccagctatcccattcctccttggagggccccaggctc
ccagcccttcctcctctgcttcagcccacaggtttccttctctggctcct
ccg


RESTRICTION ENZYME
no information

 
disease none

 
    References and comments
  1. dbSNP: rs4523540 (Submitter: DEVINE_LAB, SC_JCM)
 

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Last modified: April 24, 2006