Paralogue Annotation for SCN5A residue 1272

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1272
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1272

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FN941TCongenital stationary night blindnessMedium9 25307992

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.



SCN5AFTYVFVLEMLLKWVAYGF----KKYFTNAW>C<WLDFLIVDVSLVSLVAN-T----LGFAEMG1297
SCN1AFTYIFILEMLLKWVAYGY----QTYFTNAW>C<WLDFLIVDVSLVSLTAN-A----LGYSELG1310
SCN2AFTYIFILEMLLKWVAYGF----QVYFTNAW>C<WLDFLIVDVSLVSLTAN-A----LGYSELG1300
SCN3AFTYIFILEMLLKWVAYGF----QTYFTNAW>C<WLDFLIVDVSLVSLVAN-A----LGYSELG1298
SCN4AFTYIFIMEMLLKWVAYGF----KVYFTNAW>C<WLDFLIVDVSIISLVAN-W----LGYSELG1123
SCN7AFTYIFILEMLLKWMAYGF----KAYFSNGW>Y<RLDFVVVIVFCLSLIGK-T----RE--E--1022
SCN8AFTYIFILEMLLKWTAYGF----VKFFTNAW>C<WLDFLIVAVSLVSLIAN-A----LGYSELG1290
SCN9AFTYIFILEMLLKWIAYGY----KTYFTNAW>C<WLDFLIVDVSLVTLVAN-T----LGYSDLG1273
SCN10AFTFIFVFEMLLKWVAYGF----KKYFTNAW>C<WLDFLIVNISLISLTAK-I----LEYSEVA1244
SCN11AFTHIFILEMVLKWVAFGF----GKYFTSAW>C<CLDFIIVIVSVTTLI---------N---LM1141
CACNA1AFTGVFTFEMVIKMIDLGLVLHQGAYFRDLW>N<ILDFIVVSGALVAFAFTGN----SKGKDIN1340
CACNA1BFTGVFTFEMVIKMIDLGLLLHPGAYFRDLW>N<ILDFIVVSGALVAFAFS-G----SKGKDIN1246
CACNA1CFTTIFTIEIALKMTAYGAFLHKGSFCRNYF>N<ILDLLVVSVSLISF----G----IQSSAIN992
CACNA1DFTAIFTVEILLKMTTFGAFLHKGAFCRNYF>N<LLDMLVVGVSLVSF----G----IQSSAIS998
CACNA1EFTGVFTFEMVIKMIDQGLILQDGSYFRDLW>N<ILDFVVVVGALVAFALANA-LGTNKGRDIK1252
CACNA1FFTSIFTVEILLKMTVFGAFLHRGSFCRSWF>N<MLDLLVVSVSLISF----G----IHSSAIS963
CACNA1GFTAVFLAEMTVKVVALGWCFGEQAYLRSSW>N<VLDGLLVLISVIDILVS-MVSD-SGTKILG1375
CACNA1HFTAIFVAEMMVKVVALGLLSGEHAYLQSSW>N<LLDGLLVLVSLVDIVVA-MASA-GGAKILG1393
CACNA1IFTAIFVGEMTLKVVSLGLYFGEQAYLRSSW>N<VLDGFLVFVSIIDIVVS-LASA-GGAKILG1269
CACNA1SFTSVFTVEIVLKMTTYGAFLHKGSFCRNYF>N<MLDLLVVAVSLISM----G----LESSAIS891
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1272 for SCN5A.