Paralogue Annotation for SCN5A residue 1994

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1994
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1994

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AR2091QEpisodic ataxia 2 ?Low1 20663518

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--------------------------S--->D<--YSHSED-------L--------------2001
SCN1A--------------------------Q--->E<--GKDEKA----------------------2006
SCN2A--------------------------K--->D<--KSEKED----------------------1995
SCN3A--------------------------K--->D<--KPEKES----------------------1990
SCN4A--------------------------P--->A<--PPPGQT----------------------1826
SCN7A------------------------------>S<--P---------------------------1677
SCN8A--------------------------E--->G<--RRERAK----------------------1970
SCN9A--------------------------Q--->D<--RTEKED----------------------1967
SCN10A--------------------------S--->S<--SIQNED-------E--------------1945
SCN11A------------------------------>G<--KVHC------------------------1790
CACNA1AHPPPPDKDRYAQ-ERPDHG------RARAR>D<QRWS--------------------------2247
CACNA1BTSGASTPGRGGRRQLPQTP------LTPRP>S<ITYKTANS----S--PIHFA----------2215
CACNA1CRSHSPASFPRPFATPPATPGSRGWPPQPVP>T<LRLEGVESSEKLNSSFPSIHCGSWAETTPG2001
CACNA1DQKYSPSHSTRSWATPPATPPYRDWTPCYTP>L<IQVEQSEALDQVNGSLPSLHRSSWYTDEP-2049
CACNA1EVSDTSTP-RRSRRQLPPVP------PKPRP>L<LSYSSLIR----H--AGSIS----------2183
CACNA1FRNSGPNRAQGSWATPPQRG-----RLLYAP>L<LLVEEGAAGEGYLGRS--------------1868
CACNA1G----------SWISGDLLPPGGQEEPPSPR>D<LKKCYSVEAQSCQRRPTSWLDEQRRHSIAV2272
CACNA1H-----------------------------R>D<LRRLYSVDAQGFLDKPGR-ADEQWRPSAEL2160
CACNA1I-----------------------------P>A<ARRRLSLRGRGLFSLRG--LRAHQRSHSSG2090
CACNA1SAPPAPCQCP--------------------->-<-RVESSMPEDRKSSTPGSLHE-----ETP-1767
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1994 for SCN5A.