Paralogue Annotation for SCN5A residue 880

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 880
Reference Amino Acid: H - Histidine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 880

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AH933PDravet syndrome C ?High9 21248271

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.



SCN5AQLFGKNYSEL-RDS----D-SG---LLPRW>H<MMDFFHAFLIIFRILCGE-WIETMWDCMEV909
SCN1AQLFGKSYKDC-VCK----I-AS-DCQLPRW>H<MNDFFHSFLIVFRVLCGE-WIETMWDCMEV962
SCN2AQLFGKSYKEC-VCK----I-SN-DCELPRW>H<MHDFFHSFLIVFRVLCGE-WIETMWDCMEV953
SCN3AQLFGKSYKEC-VCK----I-ND-DCTLPRW>H<MNDFFHSFLIVFRVLCGE-WIETMWDCMEV954
SCN4AQLFGKSYKEC-VCK----I-AL-DCNLPRW>H<MHDFFHSFLIVFRILCGE-WIETMWDCMEV772
SCN7AKLFGKNYEEF-VCH----I-DK-DCQLPRW>H<MHDFFHSFLNVFRILCGE-WVETLWDCMEV699
SCN8AQLFGKSYKEC-VCK----I-NQ-DCELPRW>H<MHDFFHSFLIVFRVLCGE-WIETMWDCMEV947
SCN9AQLFGKSYKEC-VCK----I-ND-DCTLPRW>H<MNDFFHSFLIVFRVLCGE-WIETMWDCMEV927
SCN10AQLLGENYRNN-RKN----I-SAPHEDWPRW>H<MHDFFHSFLIVFRILCGE-WIENMWACMEV860
SCN11AQLFGRSFNSQ-KSPKLCNPTGPTVSCLRHW>H<MGDFWHSFLVVFRILCGE-WIENMWECMQE779
CACNA1AQLFGGQFNFD-E------------G-TPPT>N<FDTFPAAIMTVFQILTGEDWNEVMYDGIKS680
CACNA1BQLFGGQFNFQ-D------------E-TPTT>N<FDTFPAAILTVFQILTGEDWNAVMYHGIES676
CACNA1CQLFGGKFNFD-E------------MQTRRS>T<FDNFPQSLLTVFQILTGEDWNSVMYDGIMA718
CACNA1DQLFGGKFNFD-E------------TQTKRS>T<FDNFPQALLTVFQILTGEDWNAVMYDGIMA737
CACNA1EQLFGGRFNFN-D------------G-TPSA>N<FDTFPAAIMTVFQILTGEDWNEVMYNGIRS669
CACNA1FQLFGGKFNFD-Q------------THTKRS>T<FDTFPQALLTVFQILTGEDWNVVMYDGIMA723
CACNA1GHLFGCKFASER---------DG-DTLPDRK>N<FDSLLWAIVTVFQILTQEDWNKVLYNGMAS935
CACNA1HHLFGCKFSLKTD--------TG-DTVPDRK>N<FDSLLWAIVTVFQILTQEDWNVVLYNGMAS986
CACNA1IHIFGCKFSLRTD--------TG-DTVPDRK>N<FDSLLWAIVTVFQILTQEDWNVVLYNGMAS833
CACNA1SQLFGGRYDFE-D------------TEVRRS>N<FDNFPQALISVFQVLTGEDWTSMMYNGIMA626
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 880 for SCN5A.