Paralogue Annotation for SCN5A residue 899

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 899
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 899

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW952GMyoclonic epilepsy of infancyHigh9 18554359, 24168886
SCN1AW952RDravet syndromeHigh9 21868258
SCN1AW952XMyoclonic epilepsy of infancyHigh9 12566275, 23195492, 25525159
SCN1AW952XDravet syndrome BHigh9 21248271, 25525159

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.



SCN5ASG---LLPRWHMMDFFHAFLIIFRILCGE->W<IETMWDCMEV-----SGQSLCLLVFLLVMV924
SCN1AAS-DCQLPRWHMNDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQAMCLTVFMMVMV977
SCN2ASN-DCELPRWHMHDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQTMCLTVFMMVMV968
SCN3AND-DCTLPRWHMNDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQTMCLIVFMLVMV969
SCN4AAL-DCNLPRWHMHDFFHSFLIVFRILCGE->W<IETMWDCMEV-----AGQAMCLTVFLMVMV787
SCN7ADK-DCQLPRWHMHDFFHSFLNVFRILCGE->W<VETLWDCMEV-----AGQSWCIPFYLMVIL714
SCN8ANQ-DCELPRWHMHDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQAMCLIVFMMVMV962
SCN9AND-DCTLPRWHMNDFFHSFLIVFRVLCGE->W<IETMWDCMEV-----AGQAMCLIVYMMVMV942
SCN10ASAPHEDWPRWHMHDFFHSFLIVFRILCGE->W<IENMWACMEV-----GQKSICLILFLTVMV875
SCN11AGPTVSCLRHWHMGDFWHSFLVVFRILCGE->W<IENMWECMQEAN---ASSSLCVIVFILITV796
CACNA1A----G-TPPTNFDTFPAAIMTVFQILTGED>W<NEVMYDGIKSQGGV-QGGMVFSIYFIVLTL699
CACNA1B----E-TPTTNFDTFPAAILTVFQILTGED>W<NAVMYHGIESQGGV-SKGMFSSFYFIVLTL695
CACNA1C----MQTRRSTFDNFPQSLLTVFQILTGED>W<NSVMYDGIMAYGGPSFPGMLVCIYFIILFI738
CACNA1D----TQTKRSTFDNFPQALLTVFQILTGED>W<NAVMYDGIMAYGGPSSSGMIVCIYFIILFI757
CACNA1E----G-TPSANFDTFPAAIMTVFQILTGED>W<NEVMYNGIRSQGGV-SSGMWSAIYFIVLTL688
CACNA1F----THTKRSTFDTFPQALLTVFQILTGED>W<NVVMYDGIMAYGGPFFPGMLVCIYFIILFI743
CACNA1GDG-DTLPDRKNFDSLLWAIVTVFQILTQED>W<NKVLYNGMAS-T-S----SWAALYFIALMT949
CACNA1HTG-DTVPDRKNFDSLLWAIVTVFQILTQED>W<NVVLYNGMAS-T-S----SWAALYFVALMT1000
CACNA1ITG-DTVPDRKNFDSLLWAIVTVFQILTQED>W<NVVLYNGMAS-T-S----PWASLYFVALMT847
CACNA1S----TEVRRSNFDNFPQALISVFQVLTGED>W<TSMMYNGIMAYGGPSYPGMLVCIYFIILFV646
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 899 for SCN5A.