No paralogue variants have been mapped to residue 917 for SCN5A.
SCN5A | RILCGE-WIETMWDCMEV-----SGQSLCL>L<VFLLVMVIGNLVVLNLFLALLLSSFS-ADN | 946 |
SCN1A | RVLCGE-WIETMWDCMEV-----AGQAMCL>T<VFMMVMVIGNLVVLNLFLALLLSSFS-ADN | 999 |
SCN2A | RVLCGE-WIETMWDCMEV-----AGQTMCL>T<VFMMVMVIGNLVVLNLFLALLLSSFS-SDN | 990 |
SCN3A | RVLCGE-WIETMWDCMEV-----AGQTMCL>I<VFMLVMVIGNLVVLNLFLALLLSSFS-SDN | 991 |
SCN4A | RILCGE-WIETMWDCMEV-----AGQAMCL>T<VFLMVMVIGNLVVLNLFLALLLSSFS-ADS | 809 |
SCN7A | RILCGE-WVETLWDCMEV-----AGQSWCI>P<FYLMVILIGNLLVLYLFLA-LVSSFS-SCK | 735 |
SCN8A | RVLCGE-WIETMWDCMEV-----AGQAMCL>I<VFMMVMVIGNLVVLNLFLALLLSSFS-ADN | 984 |
SCN9A | RVLCGE-WIETMWDCMEV-----AGQAMCL>I<VYMMVMVIGNLVVLNLFLALLLSSFS-SDN | 964 |
SCN10A | RILCGE-WIENMWACMEV-----GQKSICL>I<LFLTVMVLGNLVVLNLFIALLLNSFS-ADN | 897 |
SCN11A | RILCGE-WIENMWECMQEAN---ASSSLCV>I<VFILITVIGKLVVLNLFIALLLNSFS-NEE | 818 |
CACNA1A | QILTGEDWNEVMYDGIKSQGGV-QGGMVFS>I<YFIVLTLFGNYTLLNVFLAIAVDNLANAQE | 722 |
CACNA1B | QILTGEDWNAVMYHGIESQGGV-SKGMFSS>F<YFIVLTLFGNYTLLNVFLAIAVDNLANAQE | 718 |
CACNA1C | QILTGEDWNSVMYDGIMAYGGPSFPGMLVC>I<YFIILFICGNYILLNVFLAIAVDNLADAES | 761 |
CACNA1D | QILTGEDWNAVMYDGIMAYGGPSSSGMIVC>I<YFIILFICGNYILLNVFLAIAVDNLADAES | 780 |
CACNA1E | QILTGEDWNEVMYNGIRSQGGV-SSGMWSA>I<YFIVLTLFGNYTLLNVFLAIAVDNLANAQE | 711 |
CACNA1F | QILTGEDWNVVMYDGIMAYGGPFFPGMLVC>I<YFIILFICGNYILLNVFLAIAVDNLASGDA | 766 |
CACNA1G | QILTQEDWNKVLYNGMAS-T-S----SWAA>L<YFIALMTFGNYVLFNLLVAILVEGFQ-AEE | 971 |
CACNA1H | QILTQEDWNVVLYNGMAS-T-S----SWAA>L<YFVALMTFGNYVLFNLLVAILVEGFQ-AEG | 1022 |
CACNA1I | QILTQEDWNVVLYNGMAS-T-S----PWAS>L<YFVALMTFGNYVLFNLLVAILVEGFQAEGD | 870 |
CACNA1S | QVLTGEDWTSMMYNGIMAYGGPSYPGMLVC>I<YFIILFVCGNYILLNVFLAIAVDNLAEAES | 669 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L917R | c.2750T>G | Inherited Arrhythmia | BrS | rs199473176 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | 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 |