No paralogue variants have been mapped to residue 285 for SCN5A.
SCN5A | NLRHKCVR--------------------NF>T<ALN---G-TN-------------GS----- | 293 |
SCN1A | NLRNKCIQ-WP-PTNASLEEH-SI-EKNIT>V<NYN---G-TL-------------IN----- | 306 |
SCN2A | NLRNKCLQ-WP-PDNSSFEIN-ITSFFNNS>L<DGN---G-TT-------------FN----- | 308 |
SCN3A | NLRNKCLQ-WP-PSDSAFETN-TTSYFNGT>M<DSN---G-TF-------------VN----- | 307 |
SCN4A | NLRQKCVR-WP-PPFN--DTN-TTWYSNDT>W<YGN---D-TWYGNEMWYGNDSWYANDTWNS | 326 |
SCN7A | NLKHKCFR-WP-QENE-------------->-<--N---E-TLH-------------N----- | 281 |
SCN8A | NLRNKCVV-WP------------------->I<NFN---E-SY-------------LE----- | 294 |
SCN9A | NLKHKCFR-NS------------------->L<ENN---E-TL-------------ES----- | 288 |
SCN10A | NLKNKCVK-N-------------------D>M<AVN---E-TTN------------------- | 288 |
SCN11A | SLNLKCIS-R-------------------D>C<K-N---I-SN-------------------- | 293 |
CACNA1A | KFHTTCFE-E-GTD------------DI-->-<--Q---G----------------------- | 266 |
CACNA1B | KFHKACFP-N-STD------------A--->-<--E---P----------------------- | 262 |
CACNA1C | KMHKTCYNQEGIAD-------------V-->-<-PA---E----------------------- | 310 |
CACNA1D | KMHKTCFF-A-DSD-------------I-->-<-VA---E----------------------- | 311 |
CACNA1E | KLHRACFM-N-NSG------------IL-->-<-EG---F----------------------- | 262 |
CACNA1F | RMHKTCYF-L-GSD-------------M-->-<-EA---E----------------------- | 277 |
CACNA1G | LLRNRCFL-P-ENFSLPLSVD-LE-RYYQT>-<ENE---DESPFICSQPRENG-------MRS | 281 |
CACNA1H | LLRNRCFL-D-SAFVRNNNLTFLR-PYYQT>-<EEG---EENPFICSSRRDNG-------MQK | 301 |
CACNA1I | LLRNRCFL-E-ENFTIQGDVA-LP-PYYQP>-<EED---DEMPFICSLSGDNG-------IMG | 279 |
CACNA1S | KMHKTCYF-I-GTD-------------I-->-<-VATVEN----------------------- | 239 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T285K | c.854C>A | Putative Benign | SIFT: Polyphen: |