No paralogue variants have been mapped to residue 935 for SCN5A.
SCN5A | -----SGQSLCLLVFLLVMVIGNLVVLNLF>L<ALLLSSFS-ADNLTAP-DEDREM-NNLQL- | 961 |
SCN1A | -----AGQAMCLTVFMMVMVIGNLVVLNLF>L<ALLLSSFS-ADNLAAT-DDDNEM-NNLQI- | 1014 |
SCN2A | -----AGQTMCLTVFMMVMVIGNLVVLNLF>L<ALLLSSFS-SDNLAAT-DDDNEM-NNLQI- | 1005 |
SCN3A | -----AGQTMCLIVFMLVMVIGNLVVLNLF>L<ALLLSSFS-SDNLAAT-DDDNEM-NNLQI- | 1006 |
SCN4A | -----AGQAMCLTVFLMVMVIGNLVVLNLF>L<ALLLSSFS-ADSLAAS-DEDGEM-NNLQI- | 824 |
SCN7A | -----AGQSWCIPFYLMVILIGNLLVLYLF>L<A-LVSSFS-SCKDVTA-EENNEA-KNLQL- | 750 |
SCN8A | -----AGQAMCLIVFMMVMVIGNLVVLNLF>L<ALLLSSFS-ADNLAAT-DDDGEM-NNLQI- | 999 |
SCN9A | -----AGQAMCLIVYMMVMVIGNLVVLNLF>L<ALLLSSFS-SDNLTAI-EEDPDA-NNLQI- | 979 |
SCN10A | -----GQKSICLILFLTVMVLGNLVVLNLF>I<ALLLNSFS-ADNLTAP-EDDGEV-NNLQV- | 912 |
SCN11A | AN---ASSSLCVIVFILITVIGKLVVLNLF>I<ALLLNSFS-NEERNGNLEGEARK-TKVQL- | 834 |
CACNA1A | QGGV-QGGMVFSIYFIVLTLFGNYTLLNVF>L<AIAVDNLANAQELTKDEQEEEEA-ANQKL- | 738 |
CACNA1B | QGGV-SKGMFSSFYFIVLTLFGNYTLLNVF>L<AIAVDNLANAQELTKDEEEMEEA-ANQKL- | 734 |
CACNA1C | YGGPSFPGMLVCIYFIILFICGNYILLNVF>L<AIAVDNLADAESLTSAQKEEEEE-KERKK- | 777 |
CACNA1D | YGGPSSSGMIVCIYFIILFICGNYILLNVF>L<AIAVDNLADAESLNTAQKEEAEE-KERKK- | 796 |
CACNA1E | QGGV-SSGMWSAIYFIVLTLFGNYTLLNVF>L<AIAVDNLANAQELTKDEQEEEEA-FNQKH- | 727 |
CACNA1F | YGGPFFPGMLVCIYFIILFICGNYILLNVF>L<AIAVDNLASGDA-GTAKDKGGEK-SNEKDL | 782 |
CACNA1G | -T-S----SWAALYFIALMTFGNYVLFNLL>V<AILVEGFQ-AEEISKREDASGQL-SCIQL- | 987 |
CACNA1H | -T-S----SWAALYFVALMTFGNYVLFNLL>V<AILVEGFQ-AEGDANRSDTDEDKTSVHFEE | 1040 |
CACNA1I | -T-S----PWASLYFVALMTFGNYVLFNLL>V<AILVEGFQAEGDAN-RSYSDEDQSSSNIE- | 886 |
CACNA1S | YGGPSYPGMLVCIYFIILFVCGNYILLNVF>L<AIAVDNLAEAESLTSAQKAKAEE-KKRRK- | 685 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L935P | c.2804T>C | Inherited Arrhythmia | BrS | rs199473179 | 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 |