Paralogue Annotation for SCN5A residue 993

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 993
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 993

No paralogue variants have been mapped to residue 993 for SCN5A.



SCN5ARTTWDFCC-----------GLLRQ-RPQKP>A<ALA-A----QGQLPSCIATPYSPPP-PETE1017
SCN1ARKIYEFIQ-----------QSFIR-KQKIL>D<EIK-PLDDLNNKKDSCMSNHT--------A1067
SCN2ARKIREFIQ-----------KAFVR-KQKAL>D<EIK-PLEDLNNKKDSCISNHT-------TI1059
SCN3ANKMRECFQ-----------KAFFR-KPKVI>-<EIH-E----GNKIDSCMSNNT-------GI1055
SCN4AAFLLGLLH-----------GKILS-PKDIM>L<SLG-EADGAGEAGEAGETAPE-------DE878
SCN7ALKILCKTQ-----------NVP-------K>D<TMD-HVNEVYVKED--ISDHTL-------S796
SCN8ALKVHAFMQ-----------AHFKQ-R--EA>D<EVK-PLDELYEKKANCIANHT-------GA1051
SCN9AQTLREFIL-----------KAFSK-KPKIS>R<EIR-QAEDLNTKKENYISNHT-------LA1033
SCN10AQALCSFFS-----------RSCPFPQPKAE>P<ELVVKLPLSSSKAENHIAANT---------966
SCN11AHTLEHFCH-----------KWCRK-Q-NLP>Q<Q--------KEVAGGCAAQ---------SK878
CACNA1AKSVWEQRTSEM--RKQNLLASREA-L---->-<--Y-NEMDPDERWKAAYTR-HLRPDMKTHL820
CACNA1BRSVWEQRASQL--RLQNLRASCEA-L---->-<--Y-SEMDPEERLRFATTR-HLRPDMKTHL814
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1EMSVWEQRTSQL--RKHMQMSSQEA-L---->-<--N-REEAPTMNPLNPLNP-LSSL------817
CACNA1F------------------------------>-<------------------------------
CACNA1GPSLDGDGDRKKCLALVSLGEHPEL-R---->-<--K-SLLPPLIIHTAATPM-SLPKSTSTGL1058
CACNA1H-RELQTTELKMCSLAVTPNGHLEG-R---->-<--G-SLSPPLIMCTAATPM-PTPKS-SPFL1094
CACNA1I-GLDSSGDPKLCPIPMTPNGHLDP-S---->-<--L-PLGGHLGPAGAAGPA-P--RL-SLQP940
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A993Tc.2977G>A Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations. Pflugers Arch. 2016 468(8):1375-87. doi: 10.1007/s00424-016-1844-3. 27287068