MYBPC3 mutation IVS7+1G>A

The IVS7+1G>A mutation of human cardiac Myosin-Binding Protein C

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
intron	7
nucleotide change	G>A
nucleotide pos. in gene	5257
UCSC Golden Path position	47326550
charge change
codon change
transcript change
translation change

mutated amplimer sequence:
ctggagctcctggtcttatgtgatccgcccgcctcagcctcccaaagtgg
ggattacaggcctgagccaccgcgcccggccactcccagtctcctttaag
ggtgcggagccttgtctcccggcccctggtgtcccctgacgccccgtccc
tccatgcacacaggtctatctgttcgagctgcacatcaccgatgcccagc
ctgccttcactggcagctaccgctgtgaggtgtccaccaaggacaaattt
gactgctccaacttcaatctcactgtccacgAtgagggggccctggtgtc
tgtcctgggctcgggctccccatgggtcctggtctcctacctccttttcc
caacactaaggaggatgcctcgtcccatccagacatgagtgctggccacg
tgcccagtgctgcacacacagggtgtgagagaaaccccaaggcttgcagg
gtaggcgtgggggcttagggctgagtccgggtctcatctgggtgggactc
tgttttatcatcttggtgtcacggctcc

**RESTRICTION ENZYME**
restriction enzyme	Tai I site lost

disease	HCM

References and comments

Erdmann J, Raible J, Maki-Abadi J, Hummel M, Hammann J, Wollnik B, Frantz E, Fleck E, Hetzer R, Regitz-Zagrosek V.
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
J Am Coll Cardiol 2001 Aug;38(2):322-30. (PubMed:11499719)

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Last modified: April 24, 2006