MYBPC3 mutation Pro453fs

The Pro453fs mutation of human cardiac Myosin-Binding Protein C

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	17
nucleotide change	del CC
nucleotide pos. in gene	10719..10720
UCSC Golden Path position	47321057..47321056
charge change
codon change
transcript change
translation change

mutated amplimer sequence:
aacacttcaacggccccttctgttctacagcaagtaagttcccctctgga
tggcttggggtggggggcacagggattatcacggggcgcactgggcccgg
aggggtgtccgcagctttcctgccacttccctgcggcccccacccaggta
catctttgagtccatcggtgccaagcgtaccctgaccatcagccagtgct
cattggcggacgacgcagcctaccagtgcgtggtgggtggcgagaagtgt
agcacggagctctttgtgaaaggtgggcctgggacctgaggatgtgggaa
cctggggaggagatggcctcaggggagccaaccctcatgctcaccctgcc
tggacagagccCTgtgctcatcacgcgccccttggaggaccagctggtga
tggtggggcagcgggtggagtttgagtgtgaagtatcggaggagggggc

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Waldmuller S, Sakthivel S, Saadi AV, Selignow C, Rakesh PG, Golubenko M, Joseph PK, Padmakumar R, Richard P, Schwartz K, Tharakan JM, Rajamanickam C, Vosberg HP.
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.
J Mol Cell Cardiol 2003 Jun;35(6):623-36. (PubMed:12788380)
- Found in affected members of two Indian families.

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Last modified: April 24, 2006