No paralogue variants have been mapped to residue 1321 for CACNA1C.
CACNA1C | AITEVNPAE----HTQ----CSPSMNAEEN>S<RISITFFRLFRV---MRLVKLLSRGEGIRT | 1348 |
CACNA1A | LVTEFGNN---------------------->-<FINLSFLRLFRA---ARLIKLLRQGYTIRI | 1680 |
CACNA1B | LVTEIAET---------------------N>N<FINLSFLRLFRA---ARLIKLLRQGYTIRI | 1588 |
CACNA1D | ALSEADPTE----SENVPVPTATPGNSEES>N<RISITFFRLFRV---MRLVKLLSRGEGIRT | 1358 |
CACNA1E | ILTDSKLV--------------------NT>S<GFNMSFLKLFRA---ARLIKLLRQGYTIRI | 1595 |
CACNA1F | AVTEVNNGG----HLG----E----SSEDS>S<RISITFFRLFRV---MRLVKLLSKGEGIRT | 1315 |
CACNA1G | TLEEIEVN--------------------AS>L<PINPTIIRIMRVLRIARVLKLLKMAVGMRA | 1731 |
CACNA1H | TLEEIEMS--------------------AA>L<PINPTIIRIMRVLRIARVLKLLKMATGMRA | 1737 |
CACNA1I | TLEEIEIN--------------------AA>L<PINPTIIRIMRVLRIARVLKLLKMATGMRA | 1607 |
CACNA1S | ILSEIDTFLASSGGLYCLGGGCGNVDPDES>A<RISSAFFRLFRV---MRLIKLLSRAEGVRT | 1255 |
SCN10A | IFSAILKS--------------------LQ>S<YFSPTLFRVIRLARIGRILRLIRAAKGIRT | 1595 |
SCN11A | MISTLENQ--------------------EH>I<PFPPTLFRIVRLARIGRILRLVRAARGIRT | 1485 |
SCN1A | FLAELIE----------------------K>Y<FVSPTLFRVIRLARIGRILRLIKGAKGIRT | 1658 |
SCN2A | FLAELIE----------------------K>Y<FVSPTLFRVIRLARIGRILRLIKGAKGIRT | 1648 |
SCN3A | FLAEMIE----------------------K>Y<FVSPTLFRVIRLARIGRILRLIKGAKGIRT | 1643 |
SCN4A | ALSDLIQ----------------------K>Y<FVSPTLFRVIRLARIGRVLRLIRGAKGIRT | 1470 |
SCN5A | VLSDIIQ----------------------K>Y<FFSPTLFRVIRLARIGRILRLIRGAKGIRT | 1645 |
SCN7A | CLPMTVG----------------------S>Y<LVPPSLVQLILLSRIIHMLRLGKGPKVFHN | 1368 |
SCN8A | FLADIIE----------------------K>Y<FVSPTLFRVIRLARIGRILRLIKGAKGIRT | 1639 |
SCN9A | FLADLIE----------------------T>Y<FVSPTLFRVIRLARIGRILRLVKGAKGIRT | 1621 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1321Y | c.3962C>A | Putative Benign | SIFT: Polyphen: |