No paralogue variants have been mapped to residue 1917 for SCN5A.
SCN5A | ITTTLRRKHEEVS----AMVIQRAF-RRHL>L<QRS--LKHA-SFLFRQ---------QAGSG | 1935 |
SCN1A | ITTTLKRKQEEVS----AVIIQRAY-RRHL>L<KRT--VKQA-SFTYNK---------NKIKG | 1949 |
SCN2A | ITTTLKRKQEEVS----AIIIQRAY-RRYL>L<KQK--VKKV-SSIYKK---------DKGKE | 1939 |
SCN3A | ITTTLKRKQEEVS----AAIIQRNF-RCYL>L<KQR--LKNI-SSNYNK---------EAIKG | 1934 |
SCN4A | ITTTLKRKHEEVC----AIKIQRAY-RRHL>L<QRS--MKQA-SYMYRH---------SHDGS | 1761 |
SCN7A | ITTTLKRKQEAVS----ATIIQRAY-KNYR>L<RRN--DKNT-SDIHMI---------DGDR- | 1658 |
SCN8A | ITTTLRRKQEEVS----AVVLQRAY-RGHL>A<RRG--FIC---------------------- | 1917 |
SCN9A | ITTTLKRKQEDVS----ATVIQRAY-RRYR>L<RQN--VKNI-SSIYIK---------DGDRD | 1912 |
SCN10A | IATTLRWKQEDIS----ATVIQKAY-RSYV>L<HRS--MALS-NTPCVP---------RAEEE | 1885 |
SCN11A | IVTTTKRKEEERG----AAIIQKAF-RKYM>M<KVT--KGDQ-G-D--Q-------------- | 1759 |
CACNA1A | LVTPHKSTDLTVGKIYAAMMIMEYY-RQSK>A<KK--LQAMR-E---EQDRTPLMFQRMEPPS | 1995 |
CACNA1B | LVPPHKPDEMTVGKVYAALMIFDFY-KQNK>T<TRDQMQQAPGG---LS----QMGPVSLFHP | 1893 |
CACNA1C | VVPPAGDDEVTVGKFYATFLIQEYF-RKFK>K<RKE--QGLV-GK--PS--------QRNALS | 1650 |
CACNA1D | VVPPAGDDEVTVGKFYATFLIQDYF-RKFK>K<RKE--QGLV-GK-YPA--------KNTTIA | 1659 |
CACNA1E | LVPMPKASDLTVGKIYAAMMIMDYY-KQSK>V<KKQ--RQQL-E---EQ-KNAPMFQRMEPSS | 1906 |
CACNA1F | VIPPPDEEEVTVGKFYATFLIQDYF-RKFR>R<RKE--KGLL-GN-DAA--------PSTSSA | 1616 |
CACNA1G | SAPSLGGSDP-----QIPLAEMEAL-SLTS>E<IVS--EPSC------------------SLA | 1999 |
CACNA1H | VVPASAPHPR-----PLQEVEMETYGAGTP>L<GSV--ASVH-SP-PAE-SCASLQIPLAVSS | 1987 |
CACNA1I | YSSPAGCKKCHHDKQEVQLAETEAF-SLNS>D<RSS--SILL-GD-DLS-LEDPTACPPGRKD | 1886 |
CACNA1S | VIPPIGDDEVTVGKFYATFLIQEHF-RKFM>K<RQE--EYY--GY--RP--------KKDIVQ | 1554 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1917P | c.5750T>C | Putative Benign | SIFT: Polyphen: |