Paralogue Annotation for SCN5A residue 1526

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1526
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1526

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT1539PDravet syndromeHigh9 18076640

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.



SCN5AKKP--------QKPIPRPLNKYQGFIFDIV>T<KQAFDVTIMFLICLNMVTMMVETDDQSPEK1556
SCN1AKKP--------QKPIPRPGNKFQGMVFDFV>T<RQVFDISIMILICLNMVTMMVETDDQSEYV1569
SCN2AKKP--------QKPIPRPANKFQGMVFDFV>T<KQVFDISIMILICLNMVTMMVETDDQSQEM1559
SCN3AKKP--------QKPIPRPANKFQGMVFDFV>T<RQVFDISIMILICLNMVTMMVETDDQGKYM1554
SCN4AKKP--------QKPIPRPQNKIQGMVYDLV>T<KQAFDITIMILICLNMVTMMVETDNQSQLK1381
SCN7AEDS--------QRPVPRPLNKLQGFIFDVV>T<SQAFNVIVMVLICFQAIAMMIDTDVQSLQM1279
SCN8AKKP--------QKPIPRPLNKIQGIVFDFV>T<QQAFDIVIMMLICLNMVTMMVETDTQSKQM1550
SCN9AKKP--------QKPIPRPGNKIQGCIFDLV>T<NQAFDISIMVLICLNMVTMMVEKEGQSQHM1532
SCN10AKKP--------QKPIPRPLNKFQGFVFDIV>T<RQAFDITIMVLICLNMITMMVETDDQSEEK1504
SCN11AKKP--------QKPIPRPLNKCQGLVFDIV>T<SQIFDIIIISLIILNMISMMAESYNQPKAM1394
CACNA1AAKP-------LTRHMPQNKQSFQYRMWQFV>V<SPPFEYTIMAMIALNTIVLMMKFYGASVAY1594
CACNA1BAKP-------LTRYMPQNRQSFQYKTWTFV>V<SPPFEYFIMAMIALNTVVLMMKFYDAPYEY1500
CACNA1CARP-------LRRYIPK--NQHQYKVWYVV>N<STYFEYLMFVLILLNTICLAMQHYGQSCLF1247
CACNA1DARP-------LRRYIPK--NPYQYKFWYVV>N<SSPFEYMMFVLIMLNTLCLAMQHYEQSKMF1253
CACNA1EAKP-------LTRYMPQNRHTFQYRVWHFV>V<SPSFEYTIMAMIALNTVVLMMKYYSAPCTY1506
CACNA1FAQP-------LRRYIPK--NPHQYRVWATV>N<SAAFEYLMFLLILLNTVALAMQHYEQTAPF1218
CACNA1GGSSASAASEAQCKPYYSDYSRFRLLVHHLC>T<SHYLDLFITGVIGLNVVTMAMEHYQQPQIL1639
CACNA1HAQ---------RRPYYADYSPTRRSIHSLC>T<SHYLDLFITFIICVNVITMSMEHYNQPKSL1645
CACNA1IAQ---------RLPYYATYCHTRLLIHSMC>T<SHYLDIFITFIICLNVVTMSLEHYNQPTSL1515
CACNA1SARP-------LRCYIPK--NPYQYQVWYIV>T<SSYFEYLMFALIMLNTICLGMQHYNQSEQM1146
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1526 for SCN5A.