No paralogue variants have been mapped to residue 869 for SCN5A.
SCN5A | GNLTLVLAIIVFIFAVVGMQLFGKNYSEL->R<DS----D-SG---LLPRWHMMDFFHAFLII | 891 |
SCN1A | GNLTLVLAIIVFIFAVVGMQLFGKSYKDC->V<CK----I-AS-DCQLPRWHMNDFFHSFLIV | 944 |
SCN2A | GNLTLVLAIIVFIFAVVGMQLFGKSYKEC->V<CK----I-SN-DCELPRWHMHDFFHSFLIV | 935 |
SCN3A | GNLTLVLAIIVFIFAVVGMQLFGKSYKEC->V<CK----I-ND-DCTLPRWHMNDFFHSFLIV | 936 |
SCN4A | GNLTLVLAIIVFIFAVVGMQLFGKSYKEC->V<CK----I-AL-DCNLPRWHMHDFFHSFLIV | 754 |
SCN7A | KDLVLLLFTFIFFSAAFGMKLFGKNYEEF->V<CH----I-DK-DCQLPRWHMHDFFHSFLNV | 681 |
SCN8A | GNLTLVLAIIVFIFAVVGMQLFGKSYKEC->V<CK----I-NQ-DCELPRWHMHDFFHSFLIV | 929 |
SCN9A | GNLTLVLAIIVFIFAVVGMQLFGKSYKEC->V<CK----I-ND-DCTLPRWHMNDFFHSFLIV | 909 |
SCN10A | GNLTIILAIIVFVFALVGKQLLGENYRNN->R<KN----I-SAPHEDWPRWHMHDFFHSFLIV | 842 |
SCN11A | GSLTVVLVIVIFIFSVVGMQLFGRSFNSQ->K<SPKLCNPTGPTVSCLRHWHMGDFWHSFLVV | 761 |
CACNA1A | ISLLFLLFLFIVVFALLGMQLFGGQFNFD->E<------------G-TPPTNFDTFPAAIMTV | 661 |
CACNA1B | ISLLFLLFLFIVVFALLGMQLFGGQFNFQ->D<------------E-TPTTNFDTFPAAILTV | 657 |
CACNA1C | ASLLLLLFLFIIIFSLLGMQLFGGKFNFD->E<------------MQTRRSTFDNFPQSLLTV | 699 |
CACNA1D | ASLLLLLFLFIIIFSLLGMQLFGGKFNFD->E<------------TQTKRSTFDNFPQALLTV | 718 |
CACNA1E | ISLLFLLFLFIVVFALLGMQLFGGRFNFN->D<------------G-TPSANFDTFPAAIMTV | 650 |
CACNA1F | ASLLLLLFLFIIIFSLLGMQLFGGKFNFD->Q<------------THTKRSTFDTFPQALLTV | 704 |
CACNA1G | ATFCMLLMLFIFIFSILGMHLFGCKFASER>-<--------DG-DTLPDRKNFDSLLWAIVTV | 916 |
CACNA1H | ATFCTLLMLFIFIFSILGMHLFGCKFSLKT>D<--------TG-DTVPDRKNFDSLLWAIVTV | 967 |
CACNA1I | ATFCMLLMLFIFIFSILGMHIFGCKFSLRT>D<--------TG-DTVPDRKNFDSLLWAIVTV | 814 |
CACNA1S | ASLLLLLFLFIVIFALLGMQLFGGRYDFE->D<------------TEVRRSNFDNFPQALISV | 607 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R869S | c.2607G>C | Putative Benign | SIFT: Polyphen: |