Paralogue Annotation for SCN5A residue 884

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 884
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 884

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AF928CEpileptic encephalopathyHigh9 23708187

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.



SCN5AKNYSEL-RDS----D-SG---LLPRWHMMD>F<FHAFLIIFRILCGE-WIETMWDCMEV----909
SCN1AKSYKDC-VCK----I-AS-DCQLPRWHMND>F<FHSFLIVFRVLCGE-WIETMWDCMEV----962
SCN2AKSYKEC-VCK----I-SN-DCELPRWHMHD>F<FHSFLIVFRVLCGE-WIETMWDCMEV----953
SCN3AKSYKEC-VCK----I-ND-DCTLPRWHMND>F<FHSFLIVFRVLCGE-WIETMWDCMEV----954
SCN4AKSYKEC-VCK----I-AL-DCNLPRWHMHD>F<FHSFLIVFRILCGE-WIETMWDCMEV----772
SCN7AKNYEEF-VCH----I-DK-DCQLPRWHMHD>F<FHSFLNVFRILCGE-WVETLWDCMEV----699
SCN8AKSYKEC-VCK----I-NQ-DCELPRWHMHD>F<FHSFLIVFRVLCGE-WIETMWDCMEV----947
SCN9AKSYKEC-VCK----I-ND-DCTLPRWHMND>F<FHSFLIVFRVLCGE-WIETMWDCMEV----927
SCN10AENYRNN-RKN----I-SAPHEDWPRWHMHD>F<FHSFLIVFRILCGE-WIENMWACMEV----860
SCN11ARSFNSQ-KSPKLCNPTGPTVSCLRHWHMGD>F<WHSFLVVFRILCGE-WIENMWECMQEAN--781
CACNA1AGQFNFD-E------------G-TPPTNFDT>F<PAAIMTVFQILTGEDWNEVMYDGIKSQGGV684
CACNA1BGQFNFQ-D------------E-TPTTNFDT>F<PAAILTVFQILTGEDWNAVMYHGIESQGGV680
CACNA1CGKFNFD-E------------MQTRRSTFDN>F<PQSLLTVFQILTGEDWNSVMYDGIMAYGGP722
CACNA1DGKFNFD-E------------TQTKRSTFDN>F<PQALLTVFQILTGEDWNAVMYDGIMAYGGP741
CACNA1EGRFNFN-D------------G-TPSANFDT>F<PAAIMTVFQILTGEDWNEVMYNGIRSQGGV673
CACNA1FGKFNFD-Q------------THTKRSTFDT>F<PQALLTVFQILTGEDWNVVMYDGIMAYGGP727
CACNA1GCKFASER---------DG-DTLPDRKNFDS>L<LWAIVTVFQILTQEDWNKVLYNGMAS-T-S937
CACNA1HCKFSLKTD--------TG-DTVPDRKNFDS>L<LWAIVTVFQILTQEDWNVVLYNGMAS-T-S988
CACNA1ICKFSLRTD--------TG-DTVPDRKNFDS>L<LWAIVTVFQILTQEDWNVVLYNGMAS-T-S835
CACNA1SGRYDFE-D------------TEVRRSNFDN>F<PQALISVFQVLTGEDWTSMMYNGIMAYGGP630
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 884 for SCN5A.