Important Splice Variant Information for SCN5A
Submitted by: Ping Yang and Andrew Wooldridge(PAT)
Reviewed by: Reviewed
Submitted date: Dec 21, 2006
There is One Important Pair of Splice Variants for SCN5A.
| Gene HGNC Name: | SCN5A |
|---|---|
| Splice Variant Summary: |  This report indicates that human hearts generate two wild-type (WT) splice variants. One making up 35% of transcripts comprises 2,016 amino acids and includes a glutamine residue at position 1077 (Q1077). The other, making up 65% of transcripts, comprises 2,015 amino acids because it lacks this glutamine (Q1077del) [PMID: 14500339, 15992732 ]. In vitro, constructs that contained Q1077 tended to have reduced currents, but the difference did not reach statistical significance; however, constructs that contained the common variant H558R + Q1077 expressed very low current density [PMID: 14500339]. |
| Definitive Publication or Website for this splice variation: | Makielski JC, Ye B, Valdivia CR, Pagel MD, Pu J, Tester DJ, Ackerman MJ. A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res. 2003 Oct 31;93(9):821-8 [PMID: 14500339]. |