Paralogue Annotation for SCN5A residue 110

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 110
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 110

No paralogue variants have been mapped to residue 110 for SCN5A.



SCN5ADLDPFYSTQK-TFI-VLNKGKTIFRFSATN>A<LYVLSPFHPIRRAAVKILVHSLFNMLIMCT140
SCN1ADLDPYYINKK-TFI-VLNKGKAIFRFSATS>A<LYILTPFNPLRKIAIKILVHSLFSMLIMCT137
SCN2ADLDPYYINKK-TFI-VLNKGKAISRFSATP>A<LYILTPFNPIRKLAIKILVHSLFNMLIMCT138
SCN3ADLDPYYINKK-TFI-VMNKGKAIFRFSATS>A<LYILTPLNPVRKIAIKILVHSLFSMLIMCT137
SCN4ADLDPYYSNKK-TFI-VLNKGKAIFRFSATP>A<LYLLSPFSVVRRGAIKVLIHALFSMFIMIT140
SCN7ADVDPYYYKKKNTFI-VLNKNRTIFRFNAAS>I<LCTLSPFNCIRRTTIKVLVHPFFQLFILIS127
SCN8ADFDPYYLTQK-TFV-VLNRGKTLFRFSATP>A<LYILSPFNLIRRIAIKILIHSVFSMIIMCT141
SCN9ADLDPYYADKK-TFI-VLNKGKTIFRFNATP>A<LYMLSPFSPLRRISIKILVHSLFSMLIMCT135
SCN10ADLDPFYSTHR-TFM-VLNKGRTISRFSATR>A<LWLFSPFNLIRRTAIKVSVHSWFSLFITVT139
SCN11ADLDPFYRNHK-TFM-VLNRKRTIYRFSAKH>A<LFIFGPFNSIRSLAIRVSVHSLFSMFIIGT138
CACNA1AYKQSMAQRARTMAL-YNPIPVRQNCLTVNR>S<LFLFSEDNVVRKYAKKITEWPPFEYMILAT107
CACNA1BYKQSIAQRARTMAL-YNPIPVKQNCFTVNR>S<LFVFSEDNVVRKYAKRITEWPPFEYMILAT104
CACNA1CTVSST-QRKRQQYG-KPKKQGSTTATRPPR>A<LLCLTLKNPIRRACISIVEWKPFEIIILLT133
CACNA1DPVGSLSQRKRQQYA-KSKKQGNSSNSRPAR>A<LFCLSLNNPIRRACISIVEWKPFDIFILLA135
CACNA1EYKQTKAQRARTMAL-YNPIPVRQNCFTVNR>S<LFIFGEDNIVRKYAKKLIDWPPFEYMILAT98
CACNA1FASGLGTPKRRNQHS-KHKTVAVASAQRSPR>A<LFCLTLANPLRRSCISIVEWKPFDILILLT101
CACNA1G-------EKDPG-SADSEAEGLPYPALAPV>V<FFYLSQDSRPRSWCLRTVCNPWFERISMLV90
CACNA1H-------ERGAELG-ADEEQRVPYPALAAT>V<FFCLGQTTRPRSWCLRLVCNPWFEHVSMLV109
CACNA1I-------LEEPL-D-G-ADPHVPHPDLAPI>A<FFCLRQTTSPRNWCIKMVCNPWFECVSMLV88
CACNA1S---SSPQDEGLRKK-QPKKPVPEILPRPPR>A<LFCLTLENPLRKACISIVEWKPFETIILLT60
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A110Tc.328G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487
Inherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430
Inherited ArrhythmiaLQTS Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999