Paralogue Annotation for SCN5A residue 914

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 914
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 914

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AM932LCongenital indifference to painMedium9 21939494, 21698661, 23450472

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.



SCN5AIIFRILCGE-WIETMWDCMEV-----SGQS>L<CLLVFLLVMVIGNLVVLNLFLALLLSSFS-943
SCN1AIVFRVLCGE-WIETMWDCMEV-----AGQA>M<CLTVFMMVMVIGNLVVLNLFLALLLSSFS-996
SCN2AIVFRVLCGE-WIETMWDCMEV-----AGQT>M<CLTVFMMVMVIGNLVVLNLFLALLLSSFS-987
SCN3AIVFRVLCGE-WIETMWDCMEV-----AGQT>M<CLIVFMLVMVIGNLVVLNLFLALLLSSFS-988
SCN4AIVFRILCGE-WIETMWDCMEV-----AGQA>M<CLTVFLMVMVIGNLVVLNLFLALLLSSFS-806
SCN7ANVFRILCGE-WVETLWDCMEV-----AGQS>W<CIPFYLMVILIGNLLVLYLFLA-LVSSFS-732
SCN8AIVFRVLCGE-WIETMWDCMEV-----AGQA>M<CLIVFMMVMVIGNLVVLNLFLALLLSSFS-981
SCN9AIVFRVLCGE-WIETMWDCMEV-----AGQA>M<CLIVYMMVMVIGNLVVLNLFLALLLSSFS-961
SCN10AIVFRILCGE-WIENMWACMEV-----GQKS>I<CLILFLTVMVLGNLVVLNLFIALLLNSFS-894
SCN11AVVFRILCGE-WIENMWECMQEAN---ASSS>L<CVIVFILITVIGKLVVLNLFIALLLNSFS-815
CACNA1ATVFQILTGEDWNEVMYDGIKSQGGV-QGGM>V<FSIYFIVLTLFGNYTLLNVFLAIAVDNLAN719
CACNA1BTVFQILTGEDWNAVMYHGIESQGGV-SKGM>F<SSFYFIVLTLFGNYTLLNVFLAIAVDNLAN715
CACNA1CTVFQILTGEDWNSVMYDGIMAYGGPSFPGM>L<VCIYFIILFICGNYILLNVFLAIAVDNLAD758
CACNA1DTVFQILTGEDWNAVMYDGIMAYGGPSSSGM>I<VCIYFIILFICGNYILLNVFLAIAVDNLAD777
CACNA1ETVFQILTGEDWNEVMYNGIRSQGGV-SSGM>W<SAIYFIVLTLFGNYTLLNVFLAIAVDNLAN708
CACNA1FTVFQILTGEDWNVVMYDGIMAYGGPFFPGM>L<VCIYFIILFICGNYILLNVFLAIAVDNLAS763
CACNA1GTVFQILTQEDWNKVLYNGMAS-T-S----S>W<AALYFIALMTFGNYVLFNLLVAILVEGFQ-968
CACNA1HTVFQILTQEDWNVVLYNGMAS-T-S----S>W<AALYFVALMTFGNYVLFNLLVAILVEGFQ-1019
CACNA1ITVFQILTQEDWNVVLYNGMAS-T-S----P>W<ASLYFVALMTFGNYVLFNLLVAILVEGFQA867
CACNA1SSVFQVLTGEDWTSMMYNGIMAYGGPSYPGM>L<VCIYFIILFVCGNYILLNVFLAIAVDNLAE666
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 914 for SCN5A.