TNNT2 mutation Gln228Glu

The Gln228Glu mutation of human cardiac Troponin T

(other names: Q228E)

**SEQUENCE**
exon	13
nucleotide change	C>G
nucleotide pos. in gene	12149
UCSC Golden Path position
amino acid change	Gln>Glu
charge change	-1
codon change	CAG>GAG
transcript change	missense
translation change	substitution, non-conservative

**RESTRICTION ENZYME**
no information

disease	none

Date this novel mutation was originally posted on this website: 3/31/2006

References and comments

Morita, Seidman et al., 2006. (direct submission)
- Q228E found in 4 of 96 normal control samples.

Last modified: April 24, 2006