Paralogue Annotation for SCN5A residue 1671

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1671
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1671

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY1684DDravet syndrome C ?High9 21248271
SCN1AY1684XDravet syndrome BHigh9 21248271
SCN1AY1684SIntractable epilepsyHigh9 23195492

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.



SCN5AKGIRTLLFALMMSLPALFNIGLLLFLVMFI>Y<SIFGMANFAYVKW-----EAG-----IDDM1691
SCN1AKGIRTLLFALMMSLPALFNIGLLLFLVMFI>Y<AIFGMSNFAYVKR-----EVG-----IDDM1704
SCN2AKGIRTLLFALMMSLPALFNIGLLLFLVMFI>Y<AIFGMSNFAYVKR-----EVG-----IDDM1694
SCN3AKGIRTLLFALMMSLPALFNIGLLLFLVMFI>Y<AIFGMSNFAYVKK-----EAG-----IDDM1689
SCN4AKGIRTLLFALMMSLPALFNIGLLLFLVMFI>Y<SIFGMSNFAYVKK-----ESG-----IDDM1516
SCN7AKVFHNLMLPLMLSLPALLNIILLIFLVMFI>Y<AVFGMYNFAYVKK-----EAG-----INDV1414
SCN8AKGIRTLLFALMMSLPALFNIGLLLFLVMFI>F<SIFGMSNFAYVKH-----EAG-----IDDM1685
SCN9AKGIRTLLFALMMSLPALFNIGLLLFLVMFI>Y<AIFGMSNFAYVKK-----EDG-----INDM1667
SCN10AKGIRTLLFALMMSLPALFNIGLLLFLVMFI>Y<SIFGMSSFPHVRW-----EAG-----IDDM1641
SCN11ARGIRTLLFALMMSLPSLFNIGLLLFLIMFI>Y<AILGMNWFSKVNP-----ESG-----IDDI1531
CACNA1AYTIRILLWTFVQSFKALPYVCLLIAMLFFI>Y<AIIGMQVFGNIGIDVEDEDSDEDEFQITEH1736
CACNA1BYTIRILLWTFVQSFKALPYVCLLIAMLFFI>Y<AIIGMQVFGNIALDD---DTS-----INRH1636
CACNA1CEGIRTLLWTFIKSFQALPYVALLIVMLFFI>Y<AVIGMQVFGKIALND---TTE-----INRN1396
CACNA1DEGIRTLLWTFIKSFQALPYVALLIAMLFFI>Y<AVIGMQMFGKVAMRD---NNQ-----INRN1406
CACNA1EYTIRILLWTFVQSFKALPYVCLLIAMLFFI>Y<AIIGMQVFGNIKLDE---ESH-----INRH1643
CACNA1FEGIRTLLWTFIKSFQALPYVALLIAMIFFI>Y<AVIGMQMFGKVALQD---GTQ-----INRN1363
CACNA1GVGMRALLDTVMQALPQVGNLGLLFMLLFFI>F<AALGVELFGDLECDET---HP--CEGLGRH1782
CACNA1HTGMRALLDTVVQALPQVGNLGLLFMLLFFI>Y<AALGVELFGRLECSED---NP--CEGLSRH1788
CACNA1ITGMRALLDTVVQALPQVGNLGLLFMLLFFI>Y<AALGVELFGKLVCNDE---NP--CEGMSRH1658
CACNA1SEGVRTLLWTFIKSFQALPYVALLIVMLFFI>Y<AVIGMQMFGKIALVD---GTQ-----INRN1303
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1671 for SCN5A.