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PMID:28264985
| Citation |
'Kapplinger, JD, Erickson, A, Asuri, S, Tester, DJ, McIntosh, S, Kerr, CR, Morrison, J, Tang, A, Sanatani, S, Arbour, L and Ackerman, MJ (2017) KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. J. Med. Genet. ' |
|---|---|
| Abstract |
Variable expressivity and incomplete penetrance between individuals with identical long QT syndrome (LQTS) causative mutations largely remain unexplained. Founder populations provide a unique opportunity to explore modifying genetic effects. We examined the role of a novel synonymous KCNQ1 p.L353L variant on the splicing of exon 8 and on heart rate corrected QT interval (QTc) in a population known to have a pathogenic LQTS type 1 (LQTS1) causative mutation, p.V205M, in KCNQ1-encoded Kv7.1. |
| Links |
PubMed Online version:10.1136/jmedgenet-2016-104153 |
| Keywords |
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Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0006813: potassium ion transport |
ECO:0000315: |
P |
Maintains potassium uptake, dysfunction causes disease. |
complete | ||||
Notes
See also
References
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