Paralogue Annotation for SCN5A residue 1021

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1021
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1021

No paralogue variants have been mapped to residue 1021 for SCN5A.



SCN5A-A----QGQLPSCIATPYSPPP-PETEKVP>P<TRKETRFEEG--EQPGQG------------1037
SCN1A-PLDDLNNKKDSCMSNHT--------AEIG>K<DLDYLKDVNG--TTSGIG------------1087
SCN2A-PLEDLNNKKDSCISNHT-------TIEIG>K<DLNYLKDGNG--TTSGI-------------1078
SCN3A-E----GNKIDSCMSNNT-------GIEIS>K<ELNYLRDGNG--TTSGVG------------1075
SCN4A-EADGAGEAGEAGETAPE-------DEKKE>P<PEEDLKKDNH--ILNHMG------------898
SCN7A-HVNEVYVKED--ISDHTL-------SELS>N<TQDFLKDKEK--S-S---------------812
SCN8A-PLDELYEKKANCIANHT-------GADIH>R<NGDFQKNGNG--TTSGI-------------1070
SCN9A-QAEDLNTKKENYISNHT-------LAEMS>K<GHNFLKEKD---KISGF-------------1051
SCN10AVKLPLSSSKAENHIAANT------------>-<-------ARG--SSGGLQ------------975
SCN11A------KEVAGGCAAQ---------SKDII>P<LVMEMKRGSE--TQEELG------------898
CACNA1A-NEMDPDERWKAAYTR-HLRPDMKTHLDRP>L<VVDPQENRN-NNTNKSRAAEPTVDQRLGQQ853
CACNA1B-SEMDPEERLRFATTR-HLRPDMKTHLDRP>L<VVELGRDGA-RGPVGGKARPEAAEAPEGVD847
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1E-REEAPTMNPLNPLNP-LSSL-------NP>L<NAHPSLYRR-PRAIEGLAL-----GLALEK844
CACNA1F------------------------------>-<------------------------------
CACNA1G-SLLPPLIIHTAATPM-SLPKSTSTGLGEA>L<GPASRRTS-SSGSAEPGA------------1079
CACNA1H-SLSPPLIMCTAATPM-PTPKS-SPFLDAA>P<SLPDSRRGSSSS-GDP-P------------1114
CACNA1I-PLGGHLGPAGAAGPA-P--RL-SLQPDPM>L<VALGSRKSSVMS-LGR-M------------960
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1021Sc.3061C>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
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