MYBPC3 mutation Thr59Ala

The Thr59Ala mutation of human cardiac Myosin-Binding Protein C

(other names: T59A)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	3
nucleotide change	A>G
nucleotide pos. in gene	2326
UCSC Golden Path position	47329483
amino acid change	ThrÝAla
charge change
codon change	ACA>GCA
transcript change	missense
translation change	substitution

mutated amplimer sequence:
gtgcacgctccaaccaggggccgctgtagcctccacctggcccttcagtc
tcagcttttagcaagaagccacggtcagtggaagtggccgcaggcagccc
tgccgtgttcgaggccgagacagagcgggcaggagtgaaggtgcgctggc
agcgcggaggcagtgacatcagcgccagcaacaagtacggcctggccGca
gagggcacacggcatacgctgacagtgcgggaagtgggccctgccgacca
gggatcttacgcagtcattgctggctcctccaaggtcaagttcgacctca
aggtcatagaggcaggtaagatcctgatcagccttccctgaggtttgggc
tgctgggggaggggcagcccagcgactctccatccatccagggaacagga
ggtgctttcacactttcttgcctttgctg

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE.
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
Circulation 2002 Jan 29;105(4):446-51. (PubMed:11815426)

Clinical features of individuals in this study having the MYBPC3:Thr59Ala mutation.
pedigree	sex	height (in.)	weight (lb.)	age of onset	age at exam	NYHA Class	LVWT, mm.	LVED	LVES	LA	EF, %	diagnosis
FSL	M			74	92	II		23		52		elderly FH

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Last modified: April 24, 2006