Paralogue Annotation for SCN5A residue 1451

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1451
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1451

No paralogue variants have been mapped to residue 1451 for SCN5A.



SCN5AWMDIMYAAVDSRGYEEQPQWEYNLYMYIYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKLG1481
SCN1AWMDIMYAAVDSRNVELQPKYEESLYMYLYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKFG1494
SCN2AWMDIMYAAVDSRNVELQPKYEDNLYMYLYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKFG1484
SCN3AWMDIMYAAVDSRDVKLQPVYEENLYMYLYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKFG1479
SCN4AWMDIMYAAVDSREKEEQPQYEVNLYMYLYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKLG1306
SCN7AWITIMNSAIDSVAVNIQPHFEVNIYMYCYF>I<NFIIFGVFLPLSMLITVIIDNFNKHKIKLG1204
SCN8AWMDIMYAAVDSRKPDEQPKYEDNIYMYIYF>V<IFIIFGSFFTLNLFIGVIIDNFNQQKKKFG1475
SCN9AWTIIMYAAVDSVNVDKQPKYEYSLYMYIYF>V<VFIIFGSFFTLNLFIGVIIDNFNQQKKKLG1457
SCN10AWMDIMYAAVDSREVNMQPKWEDNVYMYLYF>V<IFIIFGGFFTLNLFVGVIIDNFNQQKKKLG1429
SCN11AWMDIIYAAVDSTEKEQQPEFESNSLGYIYF>V<VFIIFGSFFTLNLFIGVIIDNFNQQQKKLG1319
CACNA1AWPQVLKHSVDATFENQGPSPGYRMEMSIFY>V<VYFVVFPFFFVNIFVALIIITFQEQGDKM-1521
CACNA1BWPMVLKHSVDATYEEQGPSPGYRMELSIFY>V<VYFVVFPFFFVNIFVALIIITFQEQGDKV-1427
CACNA1CWPELLYRSIDSHTEDKGPIYNYRVEISIFF>I<IYIIIIAFFMMNIFVGFVIVTFQEQGEQE-1176
CACNA1DWPALLYKAIDSNGENIGPIYNHRVEISIFF>I<IYIIIVAFFMMNIFVGFVIVTFQEQGEKE-1182
CACNA1EWPQVLQHSVDVTEEDRGPSRSNRMEMSIFY>V<VYFVVFPFFFVNIFVALIIITFQEQGDKM-1433
CACNA1FWPALLYKAIDAYAEDHGPIYNYRVEISVFF>I<VYIIIIAFFMMNIFVGFVIITFRAQGEQE-1147
CACNA1GWVDIMYDGLDAVGVDQQPIMNHNPWMLLYF>I<SFLLIVAFFVLNMFVGVVVENFHKCRQHQE1548
CACNA1HWVNIMYDGLDAVGVDQQPVQNHNPWMLLYF>I<SFLLIVSFFVLNMFVGVVVENFHKCRQHQE1566
CACNA1IWVNIMYNGLDAVAVDQQPVTNHNPWMLLYF>I<SFLLIVSFFVLNMFVGVVVENFHKCRQHQE1442
CACNA1SWPQLLYKAIDSNAEDVGPIYNNRVEMAIFF>I<IYIILIAFFMMNIFVGFVIVTFQEQGETE-1075
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1451Dc.4352T>A Inherited ArrhythmiaBrSrs199473252SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
p.Val1451Leuc.4351G>C UnknownSIFT:
Polyphen: