Paralogue Annotation for SCN5A residue 1306

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1306
Reference Amino Acid: R - Arginine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1306

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AR1132QHypokalaemic periodic paralysisHigh9 16890191, 21490317
CACNA1SR900SHypokalaemic periodic paralysisHigh9 19118277, 26433613
CACNA1AR1350QAtaxia, mental retardation and dyskinesiaHigh9 20097664, 21183743, 23831250, 25596066, 26814174
CACNA1SR900GHypokalaemic periodic paralysisHigh9 21855088

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.



SCN5AVSLVSLVAN-T----LGFAEMGPIKSLRTL>R<ALRPLRALSRFEGMRVVVNALVGAIPSIMN1336
SCN1AVSLVSLTAN-A----LGYSELGAIKSLRTL>R<ALRPLRALSRFEGMRVVVNALLGAIPSIMN1349
SCN2AVSLVSLTAN-A----LGYSELGAIKSLRTL>R<ALRPLRALSRFEGMRVVVNALLGAIPSIMN1339
SCN3AVSLVSLVAN-A----LGYSELGAIKSLRTL>R<ALRPLRALSRFEGMRVVVNALVGAIPSIMN1337
SCN4AVSIISLVAN-W----LGYSELGPIKSLRTL>R<ALRPLRALSRFEGMRVVVNALLGAIPSIMN1162
SCN7AVFCLSLIGK-T----RE--E---LKPLISM>K<FLRPLRVLSQFERMKVVVRALIKTTLPTLN1060
SCN8AVSLVSLIAN-A----LGYSELGAIKSLRTL>R<ALRPLRALSRFEGMRVVVNALVGAIPSIMN1329
SCN9AVSLVTLVAN-T----LGYSDLGPIKSLRTL>R<ALRPLRALSRFEGMRVVVNALIGAIPSIMN1312
SCN10AISLISLTAK-I----LEYSEVAPIKALRTL>R<ALRPLRALSRFEGMRVVVDALVGAIPSIMN1283
SCN11AVSVTTLI---------N---LMELKSFRTL>R<ALRPLRALSQFEGMKVVVNALIGAIPAILN1180
CACNA1AGALVAFAFTGN----SKGKDINTIKSLRVL>R<VLRPLKTIKRLPKLKAVFDCVVNSLKNVFN1379
CACNA1BGALVAFAFS-G----SKGKDINTIKSLRVL>R<VLRPLKTIKRLPKLKAVFDCVVNSLKNVLN1285
CACNA1CVSLISF----G----IQSSAINVVKILRVL>R<VLRPLRAINRAKGLKHVVQCVFVAIRTIGN1031
CACNA1DVSLVSF----G----IQSSAISVVKILRVL>R<VLRPLRAINRAKGLKHVVQCVFVAIRTIGN1037
CACNA1EGALVAFALANA-LGTNKGRDIKTIKSLRVL>R<VLRPLKTIKRLPKLKAVFDCVVTSLKNVFN1291
CACNA1FVSLISF----G----IHSSAISVVKILRVL>R<VLRPLRAINRAKGLKHVVQCVFVAIRTIGN1002
CACNA1GISVIDILVS-MVSD-SGTKILGMLRVLRLL>R<TLRPLRVISRAQGLKLVVETLMSSLKPIGN1414
CACNA1HVSLVDIVVA-MASA-GGAKILGVLRVLRLL>R<TLRPLRVISRAPGLKLVVETLISSLRPIGN1432
CACNA1IVSIIDIVVS-LASA-GGAKILGVLRVLRLL>R<TLRPLRVISRAPGLKLVVETLISSLKPIGN1308
CACNA1SVSLISM----G----LESSAISVVKILRVL>R<VLRPLRAINRAKGLKHVVQCMFVAISTIGN930
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1306Hc.3917G>A Putative BenignSIFT:
Polyphen: