Paralogue Annotation for SCN5A residue 985

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 985
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 985

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1038LAutism ?Low2 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.



SCN5A---------RTTWDFCC-----------GL>L<RQ-RPQKPAALA-A----QGQLPSCIATPY1009
SCN1A---------RKIYEFIQ-----------QS>F<IR-KQKILDEIK-PLDDLNNKKDSCMSNHT1066
SCN2A---------RKIREFIQ-----------KA>F<VR-KQKALDEIK-PLEDLNNKKDSCISNHT1057
SCN3A---------NKMRECFQ-----------KA>F<FR-KPKVI-EIH-E----GNKIDSCMSNNT1053
SCN4A---------AFLLGLLH-----------GK>I<LS-PKDIMLSLG-EADGAGEAGEAGETAPE876
SCN7A---------LKILCKTQ-----------NV>P<-------KDTMD-HVNEVYVKED--ISDHT794
SCN8A---------LKVHAFMQ-----------AH>F<KQ-R--EADEVK-PLDELYEKKANCIANHT1049
SCN9A---------QTLREFIL-----------KA>F<SK-KPKISREIR-QAEDLNTKKENYISNHT1031
SCN10A------RTKQALCSFFS-----------RS>C<PFPQPKAEPELVVKLPLSSSKAENHIAANT966
SCN11A---------HTLEHFCH-----------KW>C<RK-Q-NLPQQ--------KEVAGGCAAQ--876
CACNA1AEQQKNQKPAKSVWEQRTSEM--RKQNLLAS>R<EA-L-------Y-NEMDPDERWKAAYTR-H811
CACNA1B-RQQNSAKARSVWEQRASQL--RLQNLRAS>C<EA-L-------Y-SEMDPEERLRFATTR-H805
CACNA1C----P------------------------->-<------------------------------784
CACNA1D----L------------------------->-<------------------------------803
CACNA1ELRERRRRHHMSVWEQRTSQL--RKHMQMSS>Q<EA-L-------N-REEAPTMNPLNPLNP-L814
CACNA1F----L------------------------->-<------------------------------789
CACNA1G----PDFFSPSLDGDGDRKKCLALVSLGEH>P<EL-R-------K-SLLPPLIIHTAATPM-S1049
CACNA1H----------RELQTTELKMCSLAVTPNGH>L<EG-R-------G-SLSPPLIMCTAATPM-P1086
CACNA1I----------GLDSSGDPKLCPIPMTPNGH>L<DP-S-------L-PLGGHLGPAGAAGPA-P934
CACNA1S----E------------------------->-<------------------------------695
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L985Pc.2954T>C Putative BenignSIFT: tolerated
Polyphen: probably damaging