No paralogue variants have been mapped to residue 1932 for SCN5A.
SCN5A | RHLLQRS--LKHA-SFLFRQ---------Q>A<GSGLSEEDAPEREGL-IAYVM--------- | 1952 |
SCN1A | RHLLKRT--VKQA-SFTYNK---------N>K<IKG--GANLLIKEDM-IIDRI--------- | 1964 |
SCN2A | RYLLKQK--VKKV-SSIYKK---------D>K<GKE--CDGTPIKEDT-LIDKL--------- | 1954 |
SCN3A | CYLLKQR--LKNI-SSNYNK---------E>A<IKG--RIDLPIKQDM-IIDKL--------- | 1949 |
SCN4A | RHLLQRS--MKQA-SYMYRH---------S>H<DGS--GDDAPEKEGL-LANTM-SKMY---- | 1780 |
SCN7A | NYRLRRN--DKNT-SDIHMI---------D>G<DR----DVHATKEGA-YFDKA--------- | 1672 |
SCN8A | GHLARRG--FIC------------------>-<-----------KKTT-SNKLE--------- | 1926 |
SCN9A | RYRLRQN--VKNI-SSIYIK---------D>G<DRD---DDLLNKKDM-AFDNV--------- | 1926 |
SCN10A | SYVLHRS--MALS-NTPCVP---------R>A<EEE---AASLPDEGF-VAFTA--------- | 1899 |
SCN11A | KYMMKVT--KGDQ-G-D--Q---------->-<------------NDL-----E--------- | 1763 |
CACNA1A | QSKAKK--LQAMR-E---EQDRTPLMFQRM>E<PPS------PTQ-------EG-GP-G---- | 2003 |
CACNA1B | QNKTTRDQMQQAPGG---LS----QMGPVS>L<FHP------LKATLE-QT-QPAVLRGARVF | 1912 |
CACNA1C | KFKKRKE--QGLV-GK--PS--------QR>N<ALS-L-QAGLRTL-H-DIGPE-IRRA---- | 1668 |
CACNA1D | KFKKRKE--QGLV-GK-YPA--------KN>T<TIA-L-QAGLRTL-H-DIGPE-IRRA---- | 1677 |
CACNA1E | QSKVKKQ--RQQL-E---EQ-KNAPMFQRM>E<PSS------LPQ-------EI-IA-N---- | 1914 |
CACNA1F | KFRRRKE--KGLL-GN-DAA--------PS>T<SSA-L-QAGLRSL-Q-DLGPE-MRQA---- | 1634 |
CACNA1G | LTSEIVS--EPSC----------------->-<SLA------LTD-------DSLP------- | 2006 |
CACNA1H | GTPLGSV--ASVH-SP-PAE-SCASLQIPL>A<VSS------PAR-------SGEPLHALSPR | 2001 |
CACNA1I | LNSDRSS--SILL-GD-DLS-LEDPTACPP>G<RKD------SKG-------ELDP-----PE | 1895 |
CACNA1S | KFMKRQE--EYY--GY--RP--------KK>D<IVQ-I-QAGLRTI-EEEAAPE-ICRT---- | 1573 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1932V | c.5795C>T | Putative Benign | rs371194826 | SIFT: tolerated Polyphen: benign |