No paralogue variants have been mapped to residue 448 for CACNA1C.
CACNA1C | -YLDWITQA-ED-----------------I>D<PENEDEG----------------------- | 455 |
CACNA1A | -YMEWISKA-EE-----------------V>I<LAEDETD----------------------- | 410 |
CACNA1B | -YLEWIFKA-EE-----------------V>M<LAEEDRN----------------------- | 406 |
CACNA1D | -YLDWITQA-ED-----------------I>D<PENEEEG----------------------- | 456 |
CACNA1E | -YRAWIDKA-EE-----------------V>M<LAEENKN----------------------- | 401 |
CACNA1F | -YLDWITQA-EE-----------------L>D<MEDPSAD----------------------- | 422 |
CACNA1G | KYLVYILRKAAR-------------RLAQV>S<RA--AGVR---------------------- | 461 |
CACNA1H | KYVGHIFRKVKR-------------RSLRL>Y<ARW-QSRW---------------------- | 486 |
CACNA1I | QYVCHILRKAKR-------------RALGL>Y<QAL-QSRR---------------------- | 464 |
CACNA1S | -YMSWITQG-EV-----------------M>D<VEDFREG----------------------- | 384 |
SCN10A | -EQEVLAALGIDTTS--------------->-<-----LHSHNGSPLTSKNASERRHRIKPRV | 466 |
SCN11A | -EKEALVAMGIDRSS--------------->-<-----LTSLETSYFTPKKRKLFGNKKRKS- | 468 |
SCN1A | -QQEAAQQAATATAS----EHSREPSAAGR>L<----SDSSSEASKLSSKSAKERRNRRKKRK | 505 |
SCN2A | -QQEEAQAAAAAASA-----ESRDFSGAGG>I<GVF-SESSSVASKLSSKSEKELKNRRKKKK | 509 |
SCN3A | -QQEEAQAVAAASAA------SRDFSGIGG>L<GEL-LESSSEASKLSSKSAKEWRNRRKKRR | 507 |
SCN4A | -HQEELEKAKAAQAL--------------->-<------------------------------ | 491 |
SCN5A | -EHEALTIRGVDTVS--------------->-<-----RSSLEMSPLAPVNSHERRSKRRKR- | 481 |
SCN7A | -GNETDEAK--------------------->-<------------------------------ | 432 |
SCN8A | -QQEEAQAAAMATSAGTVSEDAIEEEGEEG>G<-GS-PRSSSEISKLSSKSAKERRNRRKKRK | 499 |
SCN9A | -EQEEAEAIAAAAAE----YTSIRRSRIMG>L<----SESSSETSKLSSKSAKERRNRRKKKN | 484 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D448A | c.1343A>C | Unknown | SIFT: deleterious Polyphen: probably damaging | ||
p.Asp448Asn | c.1342G>A | Unknown | SIFT: Polyphen: |