TNNT2 mutation Lys97Asn

The Lys97Asn mutation of human cardiac Troponin T

(other names: K97N)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	9
nucleotide change	G>T
nucleotide pos. in exon	27
nucleotide pos. in gene	8788
UCSC Golden Path position	198066066
amino acid change	Lys>Asn
charge change	-1
codon change	AAG>AAT
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ggatcagggccctgcctgtcctggacaccctcagtccctgggtccagaat
ggggctgatgctgactattcctctctccaacaggtcgttcatgcccaact
tggtgcctcccaagatccccgatggagagagagtggactttgatgtaagc
ggtggctgtgggttgagtaggcctgggctggggatagtcccaagggccct
cagtgacagagattttgtgaccttgggctggggtagagcataggtgggat
ggggtgcagcaccagccaggctgggtgcccatccatgagcgtggtcctgg
gttcaggccacagttaccccttccctggccaggcgccaggccctgccaga
ggtcttttgcactgcgttggggggtgtctagcccacccatctctcctctg
gactctttggagtggcagcctctgagccgcagcggtccacccacaggaca
tccaccggaagcgcatggagaaTgacctgaatgagttgcaggcgctgatc
gaggctcactttgagaacaggaagaaagaggaggagga

**RESTRICTION ENZYME**
restriction enzyme	Ava II site lost
fragment sizes, wild-type strand (bp)	273, 100, 82, 39
fragment sizes, mutant strand (bp)	312, 100, 82

disease	HCM

Date this novel mutation was originally posted on this website: 7/6/2001

References and comments

Barr, Seidman et al., 2001. (this study)

Clinical features of individuals in this study having the TNNT2:Lys97Asn mutation.
pedigree	sex	height (in.)	weight (lb.)	age of onset	age at exam	NYHA Class	LVWT, mm.	LVED	LVES	LA	EF, %	diagnosis
FK	F	66	165	14	37	I		50	30	50	50	HCM

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Last modified: April 24, 2006