Paralogue Annotation for SCN5A residue 102

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 102
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 102

No paralogue variants have been mapped to residue 102 for SCN5A.



SCN5AELIGEPLEDLDPFYSTQK-TFI-VLNKGKT>I<FRFSATNALYVLSPFHPIRRAAVKILVHSL132
SCN1AEMVSEPLEDLDPYYINKK-TFI-VLNKGKA>I<FRFSATSALYILTPFNPLRKIAIKILVHSL129
SCN2AEMVSVPLEDLDPYYINKK-TFI-VLNKGKA>I<SRFSATPALYILTPFNPIRKLAIKILVHSL130
SCN3AEMVSEPLEDLDPYYINKK-TFI-VMNKGKA>I<FRFSATSALYILTPLNPVRKIAIKILVHSL129
SCN4AEVIGIPLEDLDPYYSNKK-TFI-VLNKGKA>I<FRFSATPALYLLSPFSVVRRGAIKVLIHAL132
SCN7AGMVSEPLEDVDPYYYKKKNTFI-VLNKNRT>I<FRFNAASILCTLSPFNCIRRTTIKVLVHPF119
SCN8AGLVAVPLEDFDPYYLTQK-TFV-VLNRGKT>L<FRFSATPALYILSPFNLIRRIAIKILIHSV133
SCN9AGMVSEPLEDLDPYYADKK-TFI-VLNKGKT>I<FRFNATPALYMLSPFSPLRRISIKILVHSL127
SCN10AELIGEPLEDLDPFYSTHR-TFM-VLNKGRT>I<SRFSATRALWLFSPFNLIRRTAIKVSVHSW131
SCN11AELIGKPLEDLDPFYRNHK-TFM-VLNRKRT>I<YRFSAKHALFIFGPFNSIRSLAIRVSVHSL130
CACNA1A-----QRMYKQSMAQRARTMAL-YNPIPVR>Q<NCLTVNRSLFLFSEDNVVRKYAKKITEWPP99
CACNA1B-----RVLYKQSIAQRARTMAL-YNPIPVK>Q<NCFTVNRSLFVFSEDNVVRKYAKRITEWPP96
CACNA1CSAGNATISTVSST-QRKRQQYG-KPKKQGS>T<TATRPPRALLCLTLKNPIRRACISIVEWKP125
CACNA1DTMSTSAPPPVGSLSQRKRQQYA-KSKKQGN>S<SNSRPARALFCLSLNNPIRRACISIVEWKP127
CACNA1E-----AAAYKQTKAQRARTMAL-YNPIPVR>Q<NCFTVNRSLFIFGEDNIVRKYAKKLIDWPP90
CACNA1F--EGESSGASGLGTPKRRNQHS-KHKTVAV>A<SAQRSPRALFCLTLANPLRRSCISIVEWKP93
CACNA1G----PGSA-------EKDPG-SADSEAEGL>P<YPALAPVVFFYLSQDSRPRSWCLRTVCNPW82
CACNA1H----P-AA-------ERGAELG-ADEEQRV>P<YPALAATVFFCLGQTTRPRSWCLRLVCNPW101
CACNA1I----SPPG-------LEEPL-D-G-ADPHV>P<HPDLAPIAFFCLRQTTSPRNWCIKMVCNPW80
CACNA1S-----------SSPQDEGLRKK-QPKKPVP>E<ILPRPPRALFCLTLENPLRKACISIVEWKP52
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I102Vc.304A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. Int J Legal Med. 2014 25119684