Paralogue Annotation for SCN5A residue 1925

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1925
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1925

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HS1970CAutism spectrum disorderMedium2 26637798

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.



SCN5AVS----AMVIQRAF-RRHLLQRS--LKHA->S<FLFRQ---------QAGSGLSEEDAPEREG1946
SCN1AVS----AVIIQRAY-RRHLLKRT--VKQA->S<FTYNK---------NKIKG--GANLLIKED1958
SCN2AVS----AIIIQRAY-RRYLLKQK--VKKV->S<SIYKK---------DKGKE--CDGTPIKED1948
SCN3AVS----AAIIQRNF-RCYLLKQR--LKNI->S<SNYNK---------EAIKG--RIDLPIKQD1943
SCN4AVC----AIKIQRAY-RRHLLQRS--MKQA->S<YMYRH---------SHDGS--GDDAPEKEG1770
SCN7AVS----ATIIQRAY-KNYRLRRN--DKNT->S<DIHMI---------DGDR----DVHATKEG1666
SCN8AVS----AVVLQRAY-RGHLARRG--FIC-->-<---------------------------KKT1920
SCN9AVS----ATVIQRAY-RRYRLRQN--VKNI->S<SIYIK---------DGDRD---DDLLNKKD1920
SCN10AIS----ATVIQKAY-RSYVLHRS--MALS->N<TPCVP---------RAEEE---AASLPDEG1893
SCN11ARG----AAIIQKAF-RKYMMKVT--KGDQ->G<-D--Q-----------------------ND1761
CACNA1AVGKIYAAMMIMEYY-RQSKAKK--LQAMR->E<---EQDRTPLMFQRMEPPS------PTQ--1998
CACNA1BVGKVYAALMIFDFY-KQNKTTRDQMQQAPG>G<---LS----QMGPVSLFHP------LKATL1898
CACNA1CVGKFYATFLIQEYF-RKFKKRKE--QGLV->G<K--PS--------QRNALS-L-QAGLRTL-1658
CACNA1DVGKFYATFLIQDYF-RKFKKRKE--QGLV->G<K-YPA--------KNTTIA-L-QAGLRTL-1667
CACNA1EVGKIYAAMMIMDYY-KQSKVKKQ--RQQL->E<---EQ-KNAPMFQRMEPSS------LPQ--1909
CACNA1FVGKFYATFLIQDYF-RKFRRRKE--KGLL->G<N-DAA--------PSTSSA-L-QAGLRSL-1624
CACNA1G----QIPLAEMEAL-SLTSEIVS--EPSC->-<----------------SLA------LTD--2002
CACNA1H----PLQEVEMETYGAGTPLGSV--ASVH->S<P-PAE-SCASLQIPLAVSS------PAR--1990
CACNA1IHDKQEVQLAETEAF-SLNSDRSS--SILL->G<D-DLS-LEDPTACPPGRKD------SKG--1889
CACNA1SVGKFYATFLIQEHF-RKFMKRQE--EYY-->G<Y--RP--------KKDIVQ-I-QAGLRTI-1562
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1925 for SCN5A.