Paralogue Annotation for SCN5A residue 1950

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1950
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1950

No paralogue variants have been mapped to residue 1950 for SCN5A.



SCN5AQ---------QAGSGLSEEDAPEREGL-IA>Y<VM----------------------------1952
SCN1AK---------NKIKG--GANLLIKEDM-II>D<RI----------------------------1964
SCN2AK---------DKGKE--CDGTPIKEDT-LI>D<KL----------------------------1954
SCN3AK---------EAIKG--RIDLPIKQDM-II>D<KL----------------------------1949
SCN4AH---------SHDGS--GDDAPEKEGL-LA>N<TM-SKMY---------------------GH1782
SCN7AI---------DGDR----DVHATKEGA-YF>D<KA----------------------------1672
SCN8A-----------------------KKTT-SN>K<LE----------------------------1926
SCN9AK---------DGDRD---DDLLNKKDM-AF>D<NV----------------------------1926
SCN10AP---------RAEEE---AASLPDEGF-VA>F<TA----------------------------1899
SCN11AQ-----------------------NDL--->-<-E----------------------------1763
CACNA1AQDRTPLMFQRMEPPS------PTQ------>-<EG-GP-G-------QNALPS-TQLDPGGAL2018
CACNA1BS----QMGPVSLFHP------LKATLE-QT>-<QPAVLRGARVFLR-QKS--S-TSLSNGGAI1927
CACNA1CS--------QRNALS-L-QAGLRTL-H-DI>G<PE-IRRA-------ISG----DLTAEEE-L1679
CACNA1DA--------KNTTIA-L-QAGLRTL-H-DI>G<PE-IRRA-------ISC----DLQDDEP-E1688
CACNA1EQ-KNAPMFQRMEPSS------LPQ------>-<EI-IA-N-------AKALPY-LQQDPVSGL1929
CACNA1FA--------PSTSSA-L-QAGLRSL-Q-DL>G<PE-MRQA-------LTC----DTEEEEE-E1645
CACNA1G------------SLA------LTD------>-<DSLP--------DDMHTLLLSALESN-MQP2023
CACNA1HE-SCASLQIPLAVSS------PAR------>-<SGEPLHALSPRGTARSPSLSRLLCRQ-EAV2019
CACNA1IS-LEDPTACPPGRKD------SKG------>-<ELDP-----PEPMRVGDLGECFFPLS-STA1913
CACNA1SP--------KKDIVQ-I-QAGLRTI-EEEA>A<PE-ICRT-------VSG----DLAAEEE-L1584
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y1950Cc.5849A>G Putative BenignSIFT: tolerated
Polyphen: benign