Paralogue Annotation for SCN5A residue 1944

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1944
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1944

No paralogue variants have been mapped to residue 1944 for SCN5A.



SCN5AA-SFLFRQ---------QAGSGLSEEDAPE>R<EGL-IAYVM---------------------1952
SCN1AA-SFTYNK---------NKIKG--GANLLI>K<EDM-IIDRI---------------------1964
SCN2AV-SSIYKK---------DKGKE--CDGTPI>K<EDT-LIDKL---------------------1954
SCN3AI-SSNYNK---------EAIKG--RIDLPI>K<QDM-IIDKL---------------------1949
SCN4AA-SYMYRH---------SHDGS--GDDAPE>K<EGL-LANTM-SKMY----------------1780
SCN7AT-SDIHMI---------DGDR----DVHAT>K<EGA-YFDKA---------------------1672
SCN8A------------------------------>K<KTT-SNKLE---------------------1926
SCN9AI-SSIYIK---------DGDRD---DDLLN>K<KDM-AFDNV---------------------1926
SCN10AS-NTPCVP---------RAEEE---AASLP>D<EGF-VAFTA---------------------1899
SCN11AQ-G-D--Q---------------------->-<NDL-----E---------------------1763
CACNA1AR-E---EQDRTPLMFQRMEPPS------PT>Q<-------EG-GP-G-------QNALPS-TQ2011
CACNA1BPGG---LS----QMGPVSLFHP------LK>A<TLE-QT-QPAVLRGARVFLR-QKS--S-TS1920
CACNA1CV-GK--PS--------QRNALS-L-QAGLR>T<L-H-DIGPE-IRRA-------ISG----DL1673
CACNA1DV-GK-YPA--------KNTTIA-L-QAGLR>T<L-H-DIGPE-IRRA-------ISC----DL1682
CACNA1EL-E---EQ-KNAPMFQRMEPSS------LP>Q<-------EI-IA-N-------AKALPY-LQ1922
CACNA1FL-GN-DAA--------PSTSSA-L-QAGLR>S<L-Q-DLGPE-MRQA-------LTC----DT1639
CACNA1GC------------------SLA------LT>D<-------DSLP--------DDMHTLLLSAL2017
CACNA1HH-SP-PAE-SCASLQIPLAVSS------PA>R<-------SGEPLHALSPRGTARSPSLSRLL2013
CACNA1IL-GD-DLS-LEDPTACPPGRKD------SK>G<-------ELDP-----PEPMRVGDLGECFF1907
CACNA1S--GY--RP--------KKDIVQ-I-QAGLR>T<I-EEEAAPE-ICRT-------VSG----DL1578
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1944Qc.5831G>A Putative BenignSIFT:
Polyphen: