No paralogue variants have been mapped to residue 1542 for CACNA1C.
CACNA1C | HLDVVTLLRRIQPPLG--FGKLCPHRVACK>R<LVSMNMPLNSDG-TVMFNATLFALVRTALR | 1571 |
CACNA1A | YKDMYSLLRVISPPLG--LGKKCPHRVACK>R<LLRMDLPVADD-NTVHFNSTLMALIRTALD | 1906 |
CACNA1B | YNDMFEMLKHMSPPLG--LGKKCPARVAYK>R<LVRMNMPISNEDMTVHFTSTLMALIRTALE | 1805 |
CACNA1D | HLDVVTLLRRIQPPLG--FGKLCPHRVACK>R<LVAMNMPLNSDG-TVMFNATLFALVRTALK | 1579 |
CACNA1E | YTEMYEMLTLMSPPLG--LGKRCPSKVAYK>R<LVLMNMPVAED-MTVHFTSTLMALIRTALD | 1818 |
CACNA1F | HLDVVALLRRIQPPLG--FGKLCPHRVACK>R<LVAMNMPLNSDG-TVTFNATLFALVRTSLK | 1536 |
CACNA1G | LGSPF-LWPGVEGPDS--PDSPKPGAL--->-<-----HPAAHA-RSASHFSLEHPTDRQLFD | 1933 |
CACNA1H | ADRP---------PLP--QESPG--AR--->-<----DAPN---------------LVARKV- | 1919 |
CACNA1I | TGSPGAPGR---GPGGAGGGGDT--EG--->G<LCRRCYSPAQE-N--LWLDSVSLIIKDSL- | 1814 |
CACNA1S | HLDVVTLLRRIQPPLG--FGKFCPHRVACK>R<LVGMNMPLNSDG-TVTFNATLFALVRTALK | 1476 |
SCN10A | FSALSDFADTLSGPLR--IPK--PNRN--->I<LIQMDLPLVPGD-KIHCLDILFAFTKNVLG | 1813 |
SCN11A | YSALSDFADALPEPLR--VAK--PNKY--->Q<FLVMDLPMVSED-RLHCMDILFAFTARVLG | 1695 |
SCN1A | FEKLSQFAAALEPPLN--LPQ--PNKL--->Q<LIAMDLPMVSGD-RIHCLDILFAFTKRVLG | 1877 |
SCN2A | FAKLSDFADALDPPLL--IAK--PNKV--->Q<LIAMDLPMVSGD-RIHCLDILFAFTKRVLG | 1867 |
SCN3A | FSKLSDFAAALDPPLL--IAK--PNKV--->Q<LIAMDLPMVSGD-RIHCLDILFAFTKRVLG | 1862 |
SCN4A | YSRLSDFVDTLQEPLR--IAK--PNKI--->K<LITLDLPMVPGD-KIHCLDILFALTKEVLG | 1689 |
SCN5A | YSVLSDFADALSEPLR--IAK--PNQI--->S<LINMDLPMVSGD-RIHCMDILFAFTKRVLG | 1863 |
SCN7A | SSKLSDFAAALDPPLF--MAK--PNKG--->Q<LIALDLPMAVGD-RIHCLDILLAFTKRVMG | 1587 |
SCN8A | YCKLADFADALEHPLR--VPK--PNTI--->E<LIAMDLPMVSGD-RIHCLDILFAFTKRVLG | 1857 |
SCN9A | FSKLSDFAAALDPPLL--IAK--PNKV--->Q<LIAMDLPMVSGD-RIHCLDILFAFTKRVLG | 1840 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1542H | c.4625G>A | Putative Benign | SIFT: Polyphen: |