No paralogue variants have been mapped to residue 92 for SCN5A.
SCN5A | KLPDLYGNPPQELIGEPLEDLDPFYSTQK->T<FI-VLNKGKTIFRFSATNALYVLSPFHPIR | 121 |
SCN1A | NLPFIYGDIPPEMVSEPLEDLDPYYINKK->T<FI-VLNKGKAIFRFSATSALYILTPFNPLR | 118 |
SCN2A | SLPFIYGDIPPEMVSVPLEDLDPYYINKK->T<FI-VLNKGKAISRFSATPALYILTPFNPIR | 119 |
SCN3A | NLPFIYGDIPPEMVSEPLEDLDPYYINKK->T<FI-VMNKGKAIFRFSATSALYILTPLNPVR | 118 |
SCN4A | NLPMIYGDPPPEVIGIPLEDLDPYYSNKK->T<FI-VLNKGKAIFRFSATPALYLLSPFSVVR | 121 |
SCN7A | KLPFIYGNLSQGMVSEPLEDVDPYYYKKKN>T<FI-VLNKNRTIFRFNAASILCTLSPFNCIR | 108 |
SCN8A | SLPFIYGDIPQGLVAVPLEDFDPYYLTQK->T<FV-VLNRGKTLFRFSATPALYILSPFNLIR | 122 |
SCN9A | QLPFIYGDIPPGMVSEPLEDLDPYYADKK->T<FI-VLNKGKTIFRFNATPALYMLSPFSPLR | 116 |
SCN10A | QLPKFYGELPAELIGEPLEDLDPFYSTHR->T<FM-VLNKGRTISRFSATRALWLFSPFNLIR | 120 |
SCN11A | KLPKLYGDIPRELIGKPLEDLDPFYRNHK->T<FM-VLNRKRTIYRFSAKHALFIFGPFNSIR | 119 |
CACNA1A | --PGA-----------QRMYKQSMAQRART>M<AL-YNPIPVRQNCLTVNRSLFLFSEDNVVR | 88 |
CACNA1B | --PGQ-----------RVLYKQSIAQRART>M<AL-YNPIPVKQNCFTVNRSLFVFSEDNVVR | 85 |
CACNA1C | IDAARQAKLMGSAGNATISTVSST-QRKRQ>Q<YG-KPKKQGSTTATRPPRALLCLTLKNPIR | 114 |
CACNA1D | IDAARQAKAAQTMSTSAPPPVGSLSQRKRQ>Q<YA-KSKKQGNSSNSRPARALFCLSLNNPIR | 116 |
CACNA1E | --SGQ-----------AAAYKQTKAQRART>M<AL-YNPIPVRQNCFTVNRSLFIFGEDNIVR | 79 |
CACNA1F | ---AV--------EGESSGASGLGTPKRRN>Q<HS-KHKTVAVASAQRSPRALFCLTLANPLR | 82 |
CACNA1G | ---G-----------PGSA-------EKDP>G<-SADSEAEGLPYPALAPVVFFYLSQDSRPR | 71 |
CACNA1H | ---S-----------P-AA-------ERGA>E<LG-ADEEQRVPYPALAATVFFCLGQTTRPR | 90 |
CACNA1I | --PS-----------SPPG-------LEEP>L<-D-G-ADPHVPHPDLAPIAFFCLRQTTSPR | 69 |
CACNA1S | ----------------------SSPQDEGL>R<KK-QPKKPVPEILPRPPRALFCLTLENPLR | 41 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T92I | c.275C>T | Putative Benign | SIFT: Polyphen: |