No paralogue variants have been mapped to residue 839 for CACNA1C.
CACNA1C | ------TKINMDDLQPNENEDK----SPYP>N<P---ET-----TGEEDEEEP---------- | 851 |
CACNA1A | ------------------------------>-<-------------------------RHGAP | 1011 |
CACNA1B | ------------------------------>-<-------------------------RARHK | 985 |
CACNA1D | ------NKVTIDDYRE-EDEDK----DPYP>P<C---DVPVGEEEEEEEEDEP---------- | 857 |
CACNA1E | -----LAG-GLD------------------>-<EADTPL-----VLPHPELEVGKHVVLTEQE | 1025 |
CACNA1F | ------EK-------E-EEE-G----ARRE>G<A---DMEEEEEEEEEEEEEE---------- | 822 |
CACNA1G | SASEHQDCNGKS---ASGRLARALRPDD-->-<P---PL-----DGDDADDEG---------- | 1228 |
CACNA1H | PPTKCRDRDGQV---VALPSDFFLRIDS-->-<H---RE-----DAAELDDDS---------- | 1246 |
CACNA1I | PAPGHEDCNGRM---PSIAKDVFTKMGD-->-<----RG-----DRGEDEEEI---------- | 1122 |
CACNA1S | ------AKLKIDEFESNVNEVK----DPYP>S<A---DF-----PGDDEEDEP---------- | 750 |
SCN10A | PGTGTSSEDLAP---SLG------------>-<----E-----TWKDESVPQV---------- | 1073 |
SCN11A | ------------------------------>-<----------NAQRITQPEP---------- | 942 |
SCN1A | ------------------------------>-<----------DFSSESDLEE---------- | 1140 |
SCN2A | ------------------------------>-<----------EFSSESDMEE---------- | 1130 |
SCN3A | ------------------------------>-<----------EFSSESELEE---------- | 1128 |
SCN4A | ------------------------------>-<----------ETDTFSEPED---------- | 949 |
SCN5A | ------------------------------>-<----------EENSLGTEEE---------- | 1072 |
SCN7A | ------------------------------>-<----------EIQSKSGDGG---------- | 861 |
SCN8A | ------------------------------>-<----------DVSSESDPEG---------- | 1121 |
SCN9A | ------------------------------>-<----------ELSSDSDSEY---------- | 1103 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N839K | c.2517C>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.Asn839Lys | c.2517C>A | Unknown | SIFT: Polyphen: |