Paralogue Annotation for SCN5A residue 1898

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1898
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1898

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AR1902CAutism ?High4 12610651

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AKIQMEEKFMA---ANP-SKISYEPITTTLR>R<KHEEVS----AMVIQRAF-RRHLLQRS--L1921
SCN1ARIQMEERFMA---SNP-SKVSYQPITTTLK>R<KQEEVS----AVIIQRAY-RRHLLKRT--V1935
SCN2ARIQMEERFMA---SNP-SKVSYEPITTTLK>R<KQEEVS----AIIIQRAY-RRYLLKQK--V1925
SCN3ARIQMEDRFMA---SNP-SKVSYEPITTTLK>R<KQEEVS----AAIIQRNF-RCYLLKQR--L1920
SCN4AKQTMEEKFMA---ANP-SKVSYEPITTTLK>R<KHEEVC----AIKIQRAY-RRHLLQRS--M1747
SCN7AVSEIESGFLL---ANP-FKITCEPITTTLK>R<KQEAVS----ATIIQRAY-KNYRLRRN--D1645
SCN8ARQQMEERFVA---SNP-SKVSYEPITTTLR>R<KQEEVS----AVVLQRAY-RGHLARRG--F1915
SCN9ARSQMEERFMS---ANP-SKVSYEPITTTLK>R<KQEDVS----ATVIQRAY-RRYRLRQN--V1898
SCN10AKANMEEKFMA---TNL-SKSSYEPIATTLR>W<KQEDIS----ATVIQKAY-RSYVLHRS--M1871
SCN11AKAMMEEKFME---ANP-LKKLYEPIVTTTK>R<KEEERG----AAIIQKAF-RKYMMKVT--K1753
CACNA1ADAELRKEMMAIW-PNL-SQKTLDLLVTPHK>S<TDLTVGKIYAAMMIMEYY-RQSKAKK--LQ1975
CACNA1BDAELRKEISVVW-ANL-PQKTLDLLVPPHK>P<DEMTVGKVYAALMIFDFY-KQNKTTRDQMQ1876
CACNA1CNEELRAIIKKIW-KRT-SMKLLDQVVPPAG>D<DEVTVGKFYATFLIQEYF-RKFKKRKE--Q1637
CACNA1DNEELRAVIKKIW-KKT-SMKLLDQVVPPAG>D<DEVTVGKFYATFLIQDYF-RKFKKRKE--Q1645
CACNA1EDSELQKETLAIW-PHL-SQKMLDLLVPMPK>A<SDLTVGKIYAAMMIMDYY-KQSKVKKQ--R1887
CACNA1FNQELRIVIKKIW-KRM-KQKLLDEVIPPPD>E<EEVTVGKFYATFLIQDYF-RKFRRRKE--K1602
CACNA1GSLEWELKLMDEL-AGPGGQPSAFPSAPSLG>G<SDP-----QIPLAEMEAL-SLTSEIVS--E1993
CACNA1H--SVSRML-SLPNDSYM----FRPVVPASA>P<HPR-----PLQEVEMETYGAGTPLGSV--A1966
CACNA1I--EGELTIIDNL-SGSI----FHHYSSPAG>C<KKCHHDKQEVQLAETEAF-SLNSDRSS--S1865
CACNA1SNEELRAIIKKIW-KRT-SMKLLDQVIPPIG>D<DEVTVGKFYATFLIQEHF-RKFMKRQE--E1542
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1898Hc.5693G>A Putative BenignSIFT: tolerated
Polyphen: probably damaging
p.R1898Cc.5692C>T Inherited ArrhythmiaSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaBrS Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. PLoS One. 2015 10(7):e0132888. doi: 10.1371/journal.pone.0132888. 26173111