No paralogue variants have been mapped to residue 1672 for CACNA1C.
CACNA1C | RTL-H-DIGPE-IRRA-------ISG---->D<LTAEEE-LD-K-AMKEAVSA---------- | 1689 |
CACNA1A | TQ-------EG-GP-G-------QNALPS->T<QLDPGGALM---AHESGLKESPSWVTQRAQ | 2037 |
CACNA1B | KATLE-QT-QPAVLRGARVFLR-QKS--S->T<SLSNGGAIQ---NQESGIKESVSWGTQRTQ | 1946 |
CACNA1D | RTL-H-DIGPE-IRRA-------ISC---->D<LQDDEP-EE-----TKR------------- | 1692 |
CACNA1E | PQ-------EI-IA-N-------AKALPY->L<QQDPVSGL-------SGRSGYPSMSPLSPQ | 1944 |
CACNA1F | RSL-Q-DLGPE-MRQA-------LTC---->D<TEEEEE-EG-----QEGVEE---------- | 1652 |
CACNA1G | TD-------DSLP--------DDMHTLLLS>A<LESN-MQPH---PTELPGPDLLTVRKSGVS | 2042 |
CACNA1H | AR-------SGEPLHALSPRGTARSPSLSR>L<LCRQ-EAVH---TDSLEGKIDSPRDTLDPA | 2038 |
CACNA1I | KG-------ELDP-----PEPMRVGDLGEC>F<FPLS-STAVSPDPENFLCEMEEIPFNPVRS | 1935 |
CACNA1S | RTI-EEEAAPE-ICRT-------VSG---->D<LAAEEE-LE-----RAMVEA---------- | 1591 |
SCN10A | PDEGF-VAFTA------------------->-<------------------NE---------- | 1901 |
SCN11A | --NDL-----E------------------->-<------------------NG---------- | 1765 |
SCN1A | IKEDM-IIDRI------------------->-<------------------NE---------- | 1966 |
SCN2A | IKEDT-LIDKL------------------->-<------------------NE---------- | 1956 |
SCN3A | IKQDM-IIDKL------------------->-<------------------NG---------- | 1951 |
SCN4A | EKEGL-LANTM-SKMY-------------->-<------GHE---------NG---------- | 1785 |
SCN5A | EREGL-IAYVM------------------->-<------------------SE---------- | 1954 |
SCN7A | TKEGA-YFDKA------------------->-<------------------KE---------- | 1674 |
SCN8A | -KKTT-SNKLE------------------->-<------------------NG---------- | 1928 |
SCN9A | NKKDM-AFDNV------------------->-<------------------NE---------- | 1928 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1672E | c.5016T>G | Putative Benign | SIFT: Polyphen: |