No paralogue variants have been mapped to residue 962 for SCN5A.
SCN5A | ALLLSSFS-ADNLTAP-DEDREM-NNLQL->A<LARIQRGLRFVK------------------ | 974 |
SCN1A | ALLLSSFS-ADNLAAT-DDDNEM-NNLQI->A<VDRMHKGVAYVK------------------ | 1027 |
SCN2A | ALLLSSFS-SDNLAAT-DDDNEM-NNLQI->A<VGRMQKGIDFVK------------------ | 1018 |
SCN3A | ALLLSSFS-SDNLAAT-DDDNEM-NNLQI->A<VGRMQKGIDYVK------------------ | 1019 |
SCN4A | ALLLSSFS-ADSLAAS-DEDGEM-NNLQI->A<IGRIKLGIGFAK------------------ | 837 |
SCN7A | A-LVSSFS-SCKDVTA-EENNEA-KNLQL->A<VARIKKGINYVL------------------ | 763 |
SCN8A | ALLLSSFS-ADNLAAT-DDDGEM-NNLQI->S<VIRIKKGVAWTK------------------ | 1012 |
SCN9A | ALLLSSFS-SDNLTAI-EEDPDA-NNLQI->A<VTRIKKGINYVK------------------ | 992 |
SCN10A | ALLLNSFS-ADNLTAP-EDDGEV-NNLQV->A<LARIQV---FGH------------------ | 922 |
SCN11A | ALLLNSFS-NEERNGNLEGEARK-TKVQL->A<LDRFRRAFCFVR------------------ | 847 |
CACNA1A | AIAVDNLANAQELTKDEQEEEEA-ANQKL->A<LQKAKEVAEVSPLSAANMS----------- | 758 |
CACNA1B | AIAVDNLANAQELTKDEEEMEEA-ANQKL->A<LQKAKEVAEVSPMSAANIS----------- | 754 |
CACNA1C | AIAVDNLADAESLTSAQKEEEEE-KERKK->L<ART---AS---------------------- | 783 |
CACNA1D | AIAVDNLADAESLNTAQKEEAEE-KERKK->I<ARK---ES---------------------- | 802 |
CACNA1E | AIAVDNLANAQELTKDEQEEEEA-FNQKH->A<LQKAKEVSPMSAPNMPSIERDRRRRHHMSM | 758 |
CACNA1F | AIAVDNLASGDA-GTAKDKGGEK-SNEKDL>P<QEN---EG---------------------- | 788 |
CACNA1G | AILVEGFQ-AEEISKREDASGQL-SCIQL->P<VDSQGGDANKS------------ESE---- | 1002 |
CACNA1H | AILVEGFQ-AEGDANRSDTDEDKTSVHFEE>D<FHKL-------------------------- | 1045 |
CACNA1I | AILVEGFQAEGDAN-RSYSDEDQSSSNIE->E<FDKLQE------------------------ | 893 |
CACNA1S | AIAVDNLAEAESLTSAQKAKAEE-KKRRK->M<SKGLPDKS---------------------- | 694 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A962T | c.2884G>A | Putative Benign | SIFT: Polyphen: |