No paralogue variants have been mapped to residue 88 for SCN5A.
SCN5A | LQASKKLPDLYGNPPQELIGEPLEDLDPFY>S<TQK-TFI-VLNKGKTIFRFSATNALYVLSP | 116 |
SCN1A | LEAGKNLPFIYGDIPPEMVSEPLEDLDPYY>I<NKK-TFI-VLNKGKAIFRFSATSALYILTP | 113 |
SCN2A | LEAGKSLPFIYGDIPPEMVSVPLEDLDPYY>I<NKK-TFI-VLNKGKAISRFSATPALYILTP | 114 |
SCN3A | LEAGKNLPFIYGDIPPEMVSEPLEDLDPYY>I<NKK-TFI-VMNKGKAIFRFSATSALYILTP | 113 |
SCN4A | LEAGKNLPMIYGDPPPEVIGIPLEDLDPYY>S<NKK-TFI-VLNKGKAIFRFSATPALYLLSP | 116 |
SCN7A | LEVGKKLPFIYGNLSQGMVSEPLEDVDPYY>Y<KKKNTFI-VLNKNRTIFRFNAASILCTLSP | 103 |
SCN8A | LEAGKSLPFIYGDIPQGLVAVPLEDFDPYY>L<TQK-TFV-VLNRGKTLFRFSATPALYILSP | 117 |
SCN9A | LEAGKQLPFIYGDIPPGMVSEPLEDLDPYY>A<DKK-TFI-VLNKGKTIFRFNATPALYMLSP | 111 |
SCN10A | LKACNQLPKFYGELPAELIGEPLEDLDPFY>S<THR-TFM-VLNKGRTISRFSATRALWLFSP | 115 |
SCN11A | LKASRKLPKLYGDIPRELIGKPLEDLDPFY>R<NHK-TFM-VLNRKRTIYRFSAKHALFIFGP | 114 |
CACNA1A | -------PGA-----------QRMYKQSMA>Q<RARTMAL-YNPIPVRQNCLTVNRSLFLFSE | 83 |
CACNA1B | -------PGQ-----------RVLYKQSIA>Q<RARTMAL-YNPIPVKQNCFTVNRSLFVFSE | 80 |
CACNA1C | SWQAAIDAARQAKLMGSAGNATISTVSST->Q<RKRQQYG-KPKKQGSTTATRPPRALLCLTL | 109 |
CACNA1D | SWQAAIDAARQAKAAQTMSTSAPPPVGSLS>Q<RKRQQYA-KSKKQGNSSNSRPARALFCLSL | 111 |
CACNA1E | -------SGQ-----------AAAYKQTKA>Q<RARTMAL-YNPIPVRQNCFTVNRSLFIFGE | 74 |
CACNA1F | P-------AV--------EGESSGASGLGT>P<KRRNQHS-KHKTVAVASAQRSPRALFCLTL | 77 |
CACNA1G | --------G-----------PGSA------>-<EKDPG-SADSEAEGLPYPALAPVVFFYLSQ | 66 |
CACNA1H | --------S-----------P-AA------>-<ERGAELG-ADEEQRVPYPALAATVFFCLGQ | 85 |
CACNA1I | -------PS-----------SPPG------>-<LEEPL-D-G-ADPHVPHPDLAPIAFFCLRQ | 64 |
CACNA1S | ---------------------------SSP>Q<DEGLRKK-QPKKPVPEILPRPPRALFCLTL | 36 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S88G | c.262A>G | Putative Benign | SIFT: Polyphen: |