TNNI3 mutation Arg204Cys

The Arg204Cys mutation of human cardiac Troponin I

(other names: R204C)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	8
nucleotide change	C>T
nucleotide pos. in gene	6502
UCSC Golden Path position	60355037
amino acid change	Arg>Cys
charge change	-1
codon change	CGC>TGC
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggagactggcgcaagaac
atcgatgcactgagtggaatggagggcTgcaagaaaaagtttgagagctg
agccttcctgcctactgcccctgccctgaggagg

**RESTRICTION ENZYME**
restriction enzyme	Aci I site lost
fragment sizes, wild-type strand (bp)	227, 57
fragment sizes, mutant strand (bp)	284

disease	HCM

Date this novel mutation was originally posted on this website: 2/1/2002

References and comments

Barr, Seidman et al., 2002. (this study)

Clinical features of individuals in this study having the TNNI3:Arg204Cys mutation.
pedigree	sex	height (in.)	weight (lb.)	age of onset	age at exam	NYHA Class	LVWT, mm.	LVED	LVES	LA	EF, %	diagnosis
HN	M			12	17		59	46.7	33.7		38	HCM

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Last modified: April 24, 2006