No paralogue variants have been mapped to residue 308 for CACNA1C.
CACNA1C | HKTCYNQEGIAD-------------V---->P<A---E------------------------- | 310 |
CACNA1A | HTTCFE-E-GTD------------DI---->-<Q---G------------------------- | 266 |
CACNA1B | HKACFP-N-STD------------A----->-<E---P------------------------- | 262 |
CACNA1D | HKTCFF-A-DSD-------------I---->V<A---E------------------------- | 311 |
CACNA1E | HRACFM-N-NSG------------IL---->E<G---F------------------------- | 262 |
CACNA1F | HKTCYF-L-GSD-------------M---->E<A---E------------------------- | 277 |
CACNA1G | RNRCFL-P-ENFSLPLSVD-LE-RYYQT-E>N<E---DESPFICSQPRENG-------MRSCR | 283 |
CACNA1H | RNRCFL-D-SAFVRNNNLTFLR-PYYQT-E>E<G---EENPFICSSRRDNG-------MQKCS | 303 |
CACNA1I | RNRCFL-E-ENFTIQGDVA-LP-PYYQP-E>E<D---DEMPFICSLSGDNG-------IMGCH | 281 |
CACNA1S | HKTCYF-I-GTD-------------I---->V<ATVEN------------------------- | 239 |
SCN10A | KNKCVK-N-------------------DMA>V<N---E-TTN--------------------- | 288 |
SCN11A | NLKCIS-R-------------------DCK>-<N---I-SN---------------------- | 293 |
SCN1A | RNKCIQ-WP-PTNASLEEH-SI-EKNITVN>Y<N---G-TL-------------IN------- | 306 |
SCN2A | RNKCLQ-WP-PDNSSFEIN-ITSFFNNSLD>G<N---G-TT-------------FN------- | 308 |
SCN3A | RNKCLQ-WP-PSDSAFETN-TTSYFNGTMD>S<N---G-TF-------------VN------- | 307 |
SCN4A | RQKCVR-WP-PPFN--DTN-TTWYSNDTWY>G<N---D-TWYGNEMWYGNDSWYANDTWNSHA | 328 |
SCN5A | RHKCVR--------------------NFTA>L<N---G-TN-------------GS------- | 293 |
SCN7A | KHKCFR-WP-QENE---------------->-<N---E-TLH-------------N------- | 281 |
SCN8A | RNKCVV-WP-------------------IN>F<N---E-SY-------------LE------- | 294 |
SCN9A | KHKCFR-NS-------------------LE>N<N---E-TL-------------ES------- | 288 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P308L | c.923C>T | Putative Benign | rs375849936 | SIFT: tolerated Polyphen: benign |