Paralogue Annotation for SCN5A residue 917

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 917
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 917

No paralogue variants have been mapped to residue 917 for SCN5A.



SCN5ARILCGE-WIETMWDCMEV-----SGQSLCL>L<VFLLVMVIGNLVVLNLFLALLLSSFS-ADN946
SCN1ARVLCGE-WIETMWDCMEV-----AGQAMCL>T<VFMMVMVIGNLVVLNLFLALLLSSFS-ADN999
SCN2ARVLCGE-WIETMWDCMEV-----AGQTMCL>T<VFMMVMVIGNLVVLNLFLALLLSSFS-SDN990
SCN3ARVLCGE-WIETMWDCMEV-----AGQTMCL>I<VFMLVMVIGNLVVLNLFLALLLSSFS-SDN991
SCN4ARILCGE-WIETMWDCMEV-----AGQAMCL>T<VFLMVMVIGNLVVLNLFLALLLSSFS-ADS809
SCN7ARILCGE-WVETLWDCMEV-----AGQSWCI>P<FYLMVILIGNLLVLYLFLA-LVSSFS-SCK735
SCN8ARVLCGE-WIETMWDCMEV-----AGQAMCL>I<VFMMVMVIGNLVVLNLFLALLLSSFS-ADN984
SCN9ARVLCGE-WIETMWDCMEV-----AGQAMCL>I<VYMMVMVIGNLVVLNLFLALLLSSFS-SDN964
SCN10ARILCGE-WIENMWACMEV-----GQKSICL>I<LFLTVMVLGNLVVLNLFIALLLNSFS-ADN897
SCN11ARILCGE-WIENMWECMQEAN---ASSSLCV>I<VFILITVIGKLVVLNLFIALLLNSFS-NEE818
CACNA1AQILTGEDWNEVMYDGIKSQGGV-QGGMVFS>I<YFIVLTLFGNYTLLNVFLAIAVDNLANAQE722
CACNA1BQILTGEDWNAVMYHGIESQGGV-SKGMFSS>F<YFIVLTLFGNYTLLNVFLAIAVDNLANAQE718
CACNA1CQILTGEDWNSVMYDGIMAYGGPSFPGMLVC>I<YFIILFICGNYILLNVFLAIAVDNLADAES761
CACNA1DQILTGEDWNAVMYDGIMAYGGPSSSGMIVC>I<YFIILFICGNYILLNVFLAIAVDNLADAES780
CACNA1EQILTGEDWNEVMYNGIRSQGGV-SSGMWSA>I<YFIVLTLFGNYTLLNVFLAIAVDNLANAQE711
CACNA1FQILTGEDWNVVMYDGIMAYGGPFFPGMLVC>I<YFIILFICGNYILLNVFLAIAVDNLASGDA766
CACNA1GQILTQEDWNKVLYNGMAS-T-S----SWAA>L<YFIALMTFGNYVLFNLLVAILVEGFQ-AEE971
CACNA1HQILTQEDWNVVLYNGMAS-T-S----SWAA>L<YFVALMTFGNYVLFNLLVAILVEGFQ-AEG1022
CACNA1IQILTQEDWNVVLYNGMAS-T-S----PWAS>L<YFVALMTFGNYVLFNLLVAILVEGFQAEGD870
CACNA1SQVLTGEDWTSMMYNGIMAYGGPSYPGMLVC>I<YFIILFVCGNYILLNVFLAIAVDNLAEAES669
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L917Rc.2750T>G Inherited ArrhythmiaBrSrs199473176SIFT: 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