Paralogue Annotation for SCN5A residue 1929

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1929
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1929

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1SR1547WHypokalaemic periodic paralysis with malignant hypMedium2 27066551

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.



SCN5A--AMVIQRAF-RRHLLQRS--LKHA-SFLF>R<Q---------QAGSGLSEEDAPEREGL-IA1949
SCN1A--AVIIQRAY-RRHLLKRT--VKQA-SFTY>N<K---------NKIKG--GANLLIKEDM-II1961
SCN2A--AIIIQRAY-RRYLLKQK--VKKV-SSIY>K<K---------DKGKE--CDGTPIKEDT-LI1951
SCN3A--AAIIQRNF-RCYLLKQR--LKNI-SSNY>N<K---------EAIKG--RIDLPIKQDM-II1946
SCN4A--AIKIQRAY-RRHLLQRS--MKQA-SYMY>R<H---------SHDGS--GDDAPEKEGL-LA1773
SCN7A--ATIIQRAY-KNYRLRRN--DKNT-SDIH>M<I---------DGDR----DVHATKEGA-YF1669
SCN8A--AVVLQRAY-RGHLARRG--FIC------>-<-----------------------KKTT-SN1923
SCN9A--ATVIQRAY-RRYRLRQN--VKNI-SSIY>I<K---------DGDRD---DDLLNKKDM-AF1923
SCN10A--ATVIQKAY-RSYVLHRS--MALS-NTPC>V<P---------RAEEE---AASLPDEGF-VA1896
SCN11A--AAIIQKAF-RKYMMKVT--KGDQ-G-D->-<Q-----------------------NDL---1762
CACNA1AYAAMMIMEYY-RQSKAKK--LQAMR-E--->E<QDRTPLMFQRMEPPS------PTQ------1998
CACNA1BYAALMIFDFY-KQNKTTRDQMQQAPGG--->L<S----QMGPVSLFHP------LKATLE-QT1901
CACNA1CYATFLIQEYF-RKFKKRKE--QGLV-GK-->P<S--------QRNALS-L-QAGLRTL-H-DI1661
CACNA1DYATFLIQDYF-RKFKKRKE--QGLV-GK-Y>P<A--------KNTTIA-L-QAGLRTL-H-DI1670
CACNA1EYAAMMIMDYY-KQSKVKKQ--RQQL-E--->E<Q-KNAPMFQRMEPSS------LPQ------1909
CACNA1FYATFLIQDYF-RKFRRRKE--KGLL-GN-D>A<A--------PSTSSA-L-QAGLRSL-Q-DL1627
CACNA1GQIPLAEMEAL-SLTSEIVS--EPSC----->-<------------SLA------LTD------2002
CACNA1HPLQEVEMETYGAGTPLGSV--ASVH-SP-P>A<E-SCASLQIPLAVSS------PAR------1990
CACNA1IEVQLAETEAF-SLNSDRSS--SILL-GD-D>L<S-LEDPTACPPGRKD------SKG------1889
CACNA1SYATFLIQEHF-RKFMKRQE--EYY--GY-->R<P--------KKDIVQ-I-QAGLRTI-EEEA1566
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1929Cc.5785C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.R1929Hc.5786G>A Putative BenignSIFT:
Polyphen: