TNNT2 mutation Arg286His

The Arg286His mutation of human cardiac Troponin T

(other names: R286H)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	16
nucleotide change	G>A
nucleotide pos. in gene	14849
UCSC Golden Path position	198060005
amino acid change	Arg>His
charge change	0
codon change	CGC>CAC
transcript change	missense
translation change	substitution

mutated amplimer sequence:
gggggtgaaatgtggggcggagaagcttccctccagcctcaggctgctgt
cctattctgcccctggaggcagctccagcctgctcctctcccctttggca
ccccagtcctaccccagccgcatggtgacctactaccctgcctgtgtctc
catgtcactgcgtcctgcttcccctgcagctccaagacccgcgggaaggc
taaagtcaccgggcActggaaatagagcctggcctccttcaccaaagatc
tgctcctcgctcgcacctgcctccggcctgcactcccccagttcccgggc
cctcctgggcaccccaggcagctcctgtttggaaatggggagctggccta
ggtgggagccaccactcctgcctgcccccacac

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

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)
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)
- double heterozygote, with MYBPC3:Ala833Thr

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Last modified: April 24, 2006