Paralogue Annotation for SCN5A residue 1011

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1011
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1011

No paralogue variants have been mapped to residue 1011 for SCN5A.



SCN5AQ-RPQKPAALA-A----QGQLPSCIATPYS>P<PP-PETEKVPPTRKETRFEEG--EQPGQG-1037
SCN1AR-KQKILDEIK-PLDDLNNKKDSCMSNHT->-<------AEIGKDLDYLKDVNG--TTSGIG-1087
SCN2AR-KQKALDEIK-PLEDLNNKKDSCISNHT->-<-----TIEIGKDLNYLKDGNG--TTSGI--1078
SCN3AR-KPKVI-EIH-E----GNKIDSCMSNNT->-<-----GIEISKELNYLRDGNG--TTSGVG-1075
SCN4AS-PKDIMLSLG-EADGAGEAGEAGETAPE->-<-----DEKKEPPEEDLKKDNH--ILNHMG-898
SCN7A------KDTMD-HVNEVYVKED--ISDHTL>-<------SELSNTQDFLKDKEK--S-S----812
SCN8AQ-R--EADEVK-PLDELYEKKANCIANHT->-<-----GADIHRNGDFQKNGNG--TTSGI--1070
SCN9AK-KPKISREIR-QAEDLNTKKENYISNHT->-<-----LAEMSKGHNFLKEKD---KISGF--1051
SCN10AFPQPKAEPELVVKLPLSSSKAENHIAANT->-<------------------ARG--SSGGLQ-975
SCN11AK-Q-NLPQQ--------KEVAGGCAAQ--->-<-----SKDIIPLVMEMKRGSE--TQEELG-898
CACNA1AA-L-------Y-NEMDPDERWKAAYTR-HL>R<PDMKTHLDRPLVVDPQENRN-NNTNKSRAA842
CACNA1BA-L-------Y-SEMDPEERLRFATTR-HL>R<PDMKTHLDRPLVVELGRDGA-RGPVGGKAR836
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1EA-L-------N-REEAPTMNPLNPLNP-LS>S<L-------NPLNAHPSLYRR-PRAIEGLAL838
CACNA1F------------------------------>-<------------------------------
CACNA1GL-R-------K-SLLPPLIIHTAATPM-SL>P<KSTSTGLGEALGPASRRTS-SSGSAEPGA-1079
CACNA1HG-R-------G-SLSPPLIMCTAATPM-PT>P<KS-SPFLDAAPSLPDSRRGSSSS-GDP-P-1114
CACNA1IP-S-------L-PLGGHLGPAGAAGPA-P->-<RL-SLQPDPMLVALGSRKSSVMS-LGR-M-960
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1011Lc.3032C>T Other Cardiac PhenotypeSIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775
p.P1011Sc.3031C>T Putative BenignSIFT:
Polyphen: