MYBPC3 mutation Val753fs

The Val753fs mutation of human cardiac Myosin-Binding Protein C

(other names: V753fs)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	24
nucleotide change	ins T
nucleotide pos. in gene	15080..15081
UCSC Golden Path position	47316697..47316696
charge change
codon change
transcript change	frameshift
translation change	truncation

mutated amplimer sequence:
tcggtgccacagagatgattttgaactagatgctgacgtggatgcagtct
tcccacaggctgtgttccccccatggacccccgggacatctggctgttgg
cggaggctgcaagggcctctggggtctgacttggatctcaccccaactct
gcacccccccagctgctgtgtgagaccgagggccgggtccgcgtggagac
caccaaggaccgcagcatcttcacggtcgagggggcagagaaggaagatg
agggcgtctacacggtcacagtTgaagaaccctgtgggcgaggaccaggt
caacctcacagtcaaggtcatcggtgaggccggccggggtccaagctgga
gaacacagaggggcagcc

**RESTRICTION ENZYME**
no information

disease	HCM

Date this novel mutation was originally posted on this website: 9/28/2001

References and comments

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

Clinical features of individuals in this study having the MYBPC3:Val753fs mutation.
pedigree	sex	height (in.)	weight (lb.)	age of onset	age at exam	NYHA Class	LVWT, mm.	LVED	LVES	LA	EF, %	diagnosis
HI	M	74	165	34	36		22			40	55	HCM

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Last modified: April 24, 2006