User:Jkkanters
Caveolin 3 (Cav3)
The numbering of the mutations is based on the paper of Fulizio (2005)[1]. Please do only add mutations or polymorphisms which had been published in peer-reviewed papers.
| Amino Acid | Nucleotide | Comments | References |
| G56S | Polymorphism with minor allele frequency of 0.003 in the Norwegian population found by Arnestad | Arnestad (2007) [2] | |
| C72W | Identified by Arnestad in a SIDS case. | Arnestad (2007)[2] | |
| T78M | C233T | Vatta identified three unrelated individuals with this mutation. All 3 had a family history suggesting LQTS. One of them had compound heterozygousy with an HERG A913V mutation who had nonexertional syncope and QTc = 405 msec and marked sinus bradycardia. One of the two with solely Cav3 T78M mutation had nonexersional syncope and marked sinus bradycardia (QTc = 433 msec) whereas the other was asymptomatic (QTc = 456 msec). The mutation was also found by Cronk in a 4y old female who died suddenly at night. Arnestad reported two cases of SIDS, one with the Cav3 mutation alone, the other case combined with a SCN5A deletion (del586-587). | Vatta M (2006) [3] Cronk LB (2007)[4] Arnestad (2007) [2] |
| A85T | G253A | Vatta identified the mutation in a 36 y old female who died suddenly at sleep. | Vatta M (2006)[3] |
| F97C | G290T | Vatta identified the mutation in a patient who had normal ECG and no family history but severe QT prolongation (QTc = 532 msec) during betaagonist treatment for asthma | Vatta M (2006)[3] |
| F97L | Polymorphism with minor allele frequency of 0.005 in the norwegian population found by Arnestad | Arnestad (2007) [2] | |
| S141R | C423G | Vatta identified the mutation in a 16y old white male with nonexertional syncope and QTc = 480 msec | Vatta M (2006)[3] |
References
[edit]- ^ Fulizio, L.; et al. (2005). "Molecular and muscle pathology in a series of caveolinopathy patients". Human Mutation. 25 (20): 82–9. PMID 15580566.
{{cite journal}}: Explicit use of et al. in:|author=(help) - ^ a b c d Arnestad M; et al. (2007). "Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome". Circulation. 115 (3): 361–7. PMID 17210839.
{{cite journal}}: Explicit use of et al. in:|author=(help) - ^ a b c d Vatta M; et al. (2006). "Mutant Caveolin-3 Induces Persistent Late Sodium Current and Is Associated With Long QT Syndrome". Circulation. 114 (20): 2104–12. PMID 17060380.
{{cite journal}}: Explicit use of et al. in:|author=(help) - ^ Cronk LB; et al. (2007). "Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3". Heart Rhythm. 4 (2): 161–6. PMID 17275750.
{{cite journal}}: Explicit use of et al. in:|author=(help)