No paralogue variants have been mapped to residue 966 for SCN5A.
SCN5A | SSFS-ADNLTAP-DEDREM-NNLQL-ALAR>I<QRGLRFVK---------------------- | 974 |
SCN1A | SSFS-ADNLAAT-DDDNEM-NNLQI-AVDR>M<HKGVAYVK---------------------- | 1027 |
SCN2A | SSFS-SDNLAAT-DDDNEM-NNLQI-AVGR>M<QKGIDFVK---------------------- | 1018 |
SCN3A | SSFS-SDNLAAT-DDDNEM-NNLQI-AVGR>M<QKGIDYVK---------------------- | 1019 |
SCN4A | SSFS-ADSLAAS-DEDGEM-NNLQI-AIGR>I<KLGIGFAK---------------------- | 837 |
SCN7A | SSFS-SCKDVTA-EENNEA-KNLQL-AVAR>I<KKGINYVL---------------------- | 763 |
SCN8A | SSFS-ADNLAAT-DDDGEM-NNLQI-SVIR>I<KKGVAWTK---------------------- | 1012 |
SCN9A | SSFS-SDNLTAI-EEDPDA-NNLQI-AVTR>I<KKGINYVK---------------------- | 992 |
SCN10A | NSFS-ADNLTAP-EDDGEV-NNLQV-ALAR>I<QV---FGH---------------------- | 922 |
SCN11A | NSFS-NEERNGNLEGEARK-TKVQL-ALDR>F<RRAFCFVR---------------------- | 847 |
CACNA1A | DNLANAQELTKDEQEEEEA-ANQKL-ALQK>A<KEVAEVSPLSAANMS--------------I | 759 |
CACNA1B | DNLANAQELTKDEEEMEEA-ANQKL-ALQK>A<KEVAEVSPMSAANIS--------------I | 755 |
CACNA1C | DNLADAESLTSAQKEEEEE-KERKK-LART>-<--AS-------------------------- | 783 |
CACNA1D | DNLADAESLNTAQKEEAEE-KERKK-IARK>-<--ES-------------------------- | 802 |
CACNA1E | DNLANAQELTKDEQEEEEA-FNQKH-ALQK>A<KEVSPMSAPNMPSIERDRRRRHHMSMWEPR | 762 |
CACNA1F | DNLASGDA-GTAKDKGGEK-SNEKDLPQEN>-<--EG-------------------------- | 788 |
CACNA1G | EGFQ-AEEISKREDASGQL-SCIQL-PVDS>Q<GGDANKS------------ESE-------- | 1002 |
CACNA1H | EGFQ-AEGDANRSDTDEDKTSVHFEEDFHK>L<------------------------------ | 1045 |
CACNA1I | EGFQAEGDAN-RSYSDEDQSSSNIE-EFDK>L<QE---------------------------- | 893 |
CACNA1S | DNLAEAESLTSAQKAKAEE-KKRRK-MSKG>L<PDKS-------------------------- | 694 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I966L | c.2896A>C | Putative Benign | SIFT: tolerated Polyphen: probably damaging |