Splice Mutations in KVLQT1 ?
نویسندگان
چکیده
منابع مشابه
Novel mutations in KvLQT1 that affect I activation through interactions
Objectives: We report the functional expression of four KCNQ1 mutations affecting arginine residues and resulting in Romano–Ward (RW) and the Jervell and Lange–Nielsen (JLN) congenital long QT syndromes. Results: The R539W and R190Q mutations were found in typical RW families with an autosomal dominant transmission. The R243H mutation was found in a compound heterozygous JLN patient who present...
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Background—Nucleotide variants in several genes for lipid and methionine metabolism influence the risk of premature atherosclerosis. Ten percent of single nucleotide substitutions in these genes involve mRNA splice sites. The effects of some of these changes on splicing and on phenotypic severity are not inherently obvious. Methods and Results—Using an information theory-based model, we measure...
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Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome. We review these 33 mutations together with 28 previously published splice site mutations. We investigate 12 mutations for their effect on the mRNA transcript in vivo. Transcriptional data from another 16 mut...
متن کاملInformation analysis of human splice site mutations.
Splice site nucleotide substitutions can be analyzed by comparing the individual information contents (Ri, bits) of the normal and variant splice junction sequences [Rogan and Schneider, 1995]. In the present study, we related splicing abnormalities to changes in Ri values of 111 previously reported splice site substitutions in 41 different genes. Mutant donor and acceptor sites have significan...
متن کاملPathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.
The inherited long QT syndrome (LQTS), characterized by a prolonged QT interval in the electrocardiogram and cardiac arrhythmia, is caused by mutations in at least four different genes, three of which have been identified and encode cardiac ion channels. The most common form of LQTS is due to mutations in the potassium channel gene KVLQT1, but their effects on associated currents are still unkn...
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ژورنال
عنوان ژورنال: Circulation
سال: 1999
ISSN: 0009-7322,1524-4539
DOI: 10.1161/circ.99.18.2476/a