Paralogue Annotation for SCN5A residue 1418

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1418
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1418

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1431IDravet syndromeHigh9 18930999

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5ATGE--LYWTKVKVNFDNVGAGYLALLQVAT>F<KGWMDIMYAAVDSRGYEEQPQWEYNLYMYI1448
SCN1ARNET-ARWKNVKVNFDNVGFGYLSLLQVAT>F<KGWMDIMYAAVDSRNVELQPKYEESLYMYL1461
SCN2ASNQT-ARWKNVKVNFDNVGLGYLSLLQVAT>F<KGWMDIMYAAVDSRNVELQPKYEDNLYMYL1451
SCN3A--Q--ARWKNVKVNFDNVGAGYLALLQVAT>F<KGWMDIMYAAVDSRDVKLQPVYEENLYMYL1446
SCN4ATGQ--VRWLNVKVNYDNVGLGYLSLLQVAT>F<KGWMDIMYAAVDSREKEEQPQYEVNLYMYL1273
SCN7ANES--MLWENAKMNFDNVGNGFLSLLQVAT>F<NGWITIMNSAIDSVAVNIQPHFEVNIYMYC1171
SCN8AGNNTEIRWKNVKINFDNVGAGYLALLQVAT>F<KGWMDIMYAAVDSRKPDEQPKYEDNIYMYI1442
SCN9AVSQN-VRWKNLKVNFDNVGLGYLSLLQVAT>F<KGWTIIMYAAVDSVNVDKQPKYEYSLYMYI1424
SCN10ATGS--FFWVNVKVNFDNVAMGYLALLQVAT>F<KGWMDIMYAAVDSREVNMQPKWEDNVYMYL1396
SCN11A-----FSWINQKVNFDNVGNAYLALLQVAT>F<KGWMDIIYAAVDSTEKEQQPEFESNSLGYI1286
CACNA1AAR--DREWKKYEFHYDNVLWALLTLFTVST>G<EGWPQVLKHSVDATFENQGPSPGYRMEMSI1489
CACNA1BAQ--PRQWKKYDFHYDNVLWALLTLFTVST>G<EGWPMVLKHSVDATYEEQGPSPGYRMELSI1395
CACNA1CIQ--PRSWENSKFDFDNVLAAMMALFTVST>F<EGWPELLYRSIDSHTEDKGPIYNYRVEISI1144
CACNA1DVR--ERIWQNSDFNFDNVLSAMMALFTVST>F<EGWPALLYKAIDSNGENIGPIYNHRVEISI1150
CACNA1EVK--GREWKRHEFHYDNIIWALLTLFTVST>G<EGWPQVLQHSVDVTEEDRGPSRSNRMEMSI1401
CACNA1FVR--ERLWVNSDFNFDNVLSAMMALFTVST>F<EGWPALLYKAIDAYAEDHGPIYNYRVEISV1115
CACNA1GEA--SYRWVRHKYNFDNLGQALMSLFVLAS>K<DGWVDIMYDGLDAVGVDQQPIMNHNPWMLL1515
CACNA1HAA--HYRWVRRKYNFDNLGQALMSLFVLSS>K<DGWVNIMYDGLDAVGVDQQPVQNHNPWMLL1533
CACNA1IAA--NYRWVHHKYNFDNLGQALMSLFVLAS>K<DGWVNIMYNGLDAVAVDQQPVTNHNPWMLL1409
CACNA1SLR--HREWVHSDFHFDNVLSAMMSLFTVST>F<EGWPQLLYKAIDSNAEDVGPIYNNRVEMAI1043
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1418 for SCN5A.