MYBPC3 mutation Tyr237Ser

The Tyr237Ser mutation of human cardiac Myosin-Binding Protein C

(other names: Y237S)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	7
nucleotide change	A>C
nucleotide pos. in gene	5194
UCSC Golden Path position	47326613
amino acid change	TyrÝSer
charge change
codon change	TAC>TCC
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ctggagctcctggtcttatgtgatccgcccgcctcagcctcccaaagtgg
ggattacaggcctgagccaccgcgcccggccactcccagtctcctttaag
ggtgcggagccttgtctcccggcccctggtgtcccctgacgccccgtccc
tccatgcacacaggtctatctgttcgagctgcacatcaccgatgcccagc
ctgccttcactggcagctCccgctgtgaggtgtccaccaaggacaaattt
gactgctccaacttcaatctcactgtccacggtgagggggccctggtgtc
tgtcctgggctcgggctccccatgggtcctggtctcctacctccttttcc
caacactaaggaggatgcctcgtcccatccagacatgagtgctggccacg
tgcccagtgctgcacacacagggtgtgagagaaaccccaaggcttgcagg
gtaggcgtgggggcttagggctgagtccgggtctcatctgggtgggactc
tgttttatcatcttggtgtcacggctcc

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenstrom A.
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
J Mol Cell Cardiol 2003 Jul;35(7):841-9. (PubMed:12818575)

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Last modified: April 24, 2006