Project 3 > Mutation Database > TNNT2 mutations > IVS11-1G>A

The IVS11-1G>A mutation of human cardiac Troponin T

(other names:  Q191del)

SEQUENCE
   
nucleotide change G>A
nucleotide pos. in amplimer  
nucleotide pos. in gene 11674
UCSC Golden Path position 198063180
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
gtaaacccggctgactacagcgagtatctgaatcttctcttccatgtctc
tccttgcctttgtcttcctgccttctctctgtgtctctgttgccgtcttg
gtctttttctatgggcctctctctcatggtttcccggtttaAcaggccca
ggtgggtaccaaaaacctcaagccttcttcctccccatagttttggagag
ctccctgggaggggaaggcgccttgctggaggggaggagtgaagagattg
ggctggct


RESTRICTION ENZYME
no information

 
disease uncertain

 
    References and comments
  1. Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.
    Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2004 Aug 4;44(3):602-10. (PubMed:15358028)
 

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Last modified: April 24, 2006