No paralogue variants have been mapped to residue 1648 for CACNA1C.
| CACNA1C | FKKRKE--QGLV-GK--PS--------QRN>A<LS-L-QAGLRTL-H-DIGPE-IRRA----- | 1668 |
| CACNA1A | SKAKK--LQAMR-E---EQDRTPLMFQRME>P<PS------PTQ-------EG-GP-G----- | 2003 |
| CACNA1B | NKTTRDQMQQAPGG---LS----QMGPVSL>F<HP------LKATLE-QT-QPAVLRGARVFL | 1913 |
| CACNA1D | FKKRKE--QGLV-GK-YPA--------KNT>T<IA-L-QAGLRTL-H-DIGPE-IRRA----- | 1677 |
| CACNA1E | SKVKKQ--RQQL-E---EQ-KNAPMFQRME>P<SS------LPQ-------EI-IA-N----- | 1914 |
| CACNA1F | FRRRKE--KGLL-GN-DAA--------PST>S<SA-L-QAGLRSL-Q-DLGPE-MRQA----- | 1634 |
| CACNA1G | TSEIVS--EPSC------------------>S<LA------LTD-------DSLP-------- | 2006 |
| CACNA1H | TPLGSV--ASVH-SP-PAE-SCASLQIPLA>V<SS------PAR-------SGEPLHALSPRG | 2002 |
| CACNA1I | NSDRSS--SILL-GD-DLS-LEDPTACPPG>R<KD------SKG-------ELDP-----PEP | 1896 |
| CACNA1S | FMKRQE--EYY--GY--RP--------KKD>I<VQ-I-QAGLRTI-EEEAAPE-ICRT----- | 1573 |
| SCN10A | YVLHRS--MALS-NTPCVP---------RA>E<EE---AASLPDEGF-VAFTA---------- | 1899 |
| SCN11A | YMMKVT--KGDQ-G-D--Q----------->-<-----------NDL-----E---------- | 1763 |
| SCN1A | HLLKRT--VKQA-SFTYNK---------NK>I<KG--GANLLIKEDM-IIDRI---------- | 1964 |
| SCN2A | YLLKQK--VKKV-SSIYKK---------DK>G<KE--CDGTPIKEDT-LIDKL---------- | 1954 |
| SCN3A | YLLKQR--LKNI-SSNYNK---------EA>I<KG--RIDLPIKQDM-IIDKL---------- | 1949 |
| SCN4A | HLLQRS--MKQA-SYMYRH---------SH>D<GS--GDDAPEKEGL-LANTM-SKMY----- | 1780 |
| SCN5A | HLLQRS--LKHA-SFLFRQ---------QA>G<SGLSEEDAPEREGL-IAYVM---------- | 1952 |
| SCN7A | YRLRRN--DKNT-SDIHMI---------DG>D<R----DVHATKEGA-YFDKA---------- | 1672 |
| SCN8A | HLARRG--FIC------------------->-<----------KKTT-SNKLE---------- | 1926 |
| SCN9A | YRLRQN--VKNI-SSIYIK---------DG>D<RD---DDLLNKKDM-AFDNV---------- | 1926 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A1648T | c.4942G>A | Putative Benign | rs370432385 | SIFT: tolerated Polyphen: benign | |
| p.A1648V | c.4943C>T | Putative Benign | SIFT: Polyphen: |