Project 3 > Mutation Database > MYBPC3 mutations > IVS22+2t>g

The IVS22+2t>g mutation of human cardiac Myosin-Binding Protein C

SEQUENCE
intron 22
nucleotide change t>g
nucleotide pos. in gene 14001
UCSC Golden Path position 47317776
charge change  
codon change  
transcript change splice site alteration
translation change  


mutated amplimer sequence:
tcctcctggctctcccgtttctctgaactacattgtgtcttctgcagaac
ctcccaagatccacctggactgcccaggccgcataccagacaccattgtg
gttgtagctggaaataagctacgtctggacgtccctatctctggggaccc
tgctcccactgtgatctggcagaaggctatcacgcaggGactgtgggtcc
ctcctcagtctccccatctataagatgggtgtgtggaaccagccaagtgc
taggacctgctgcacaccccacccacatgtgcacgccctgctgttggcta
ccccgtgggagagactggtcagggggcaggcaaggtgggcagtgtgggtc
agggggtggaagaagcagcagaggggcgc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Golubenko MV, Puzyrev KV, Puzyrev VP, Pavlukova EN, Makeeva OA, Vosberg HP.
    Gene symbol: MYBPC3. Disease: Hypertrophic cardiomyopathy.
    Hum Genet 2004 Mar;114(4):406. (PubMed:15046084)
 

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Last modified: April 24, 2006