Paralogue Annotation for SCN5A residue 228

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 228
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 228

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1SR174WMalignant hyperthermia ?Medium9 19825159, 22547813, 23663834
SCN1AK225NDravet syndromeHigh9 24168886

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.



SCN5A----------------NLSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLADVMVLTV258
SCN1A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV255
SCN2A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV256
SCN3A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV255
SCN4A----------------NISALRTFRVLRAL>K<TITVIPGLKTIVGALIQSVKKLSDVMILTV258
SCN7A----------------FIPTLQTARTLRIL>K<IIPLNQGLKSLVGVLIHCLKQLIGVIILTL245
SCN8A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV259
SCN9A----------------NVSALRTFRVLRAL>K<TISVIPGLKTIVGALIQSVKKLSDVMILTV253
SCN10A----------------GISGLRTFRVLRAL>K<TVSVIPGLKVIVGALIHSVKKLADVTILTI254
SCN11A---------------IKLLPLRTFRVFRAL>K<AISVVSRLKVIVGALLRSVKKLVNVIILTF261
CACNA1A----------------DLRTLRAVRVLRPL>K<LVSGIPSLQVVLKSIMKAMIPLLQIGLLLF234
CACNA1B----------------DLRTLRAVRVLRPL>K<LVSGIPSLQVVLKSIMKAMVPLLQIGLLLF231
CACNA1CKA-DGANALGGKGAGFDVKALRAFRVLRPL>R<LVSGVPSLQVVLNSIIKAMVPLLHIALLVL276
CACNA1DKETEGGNHSSGKSGGFDVKALRAFRVLRPL>R<LVSGVPSLQVVLNSIIKAMVPLLHIALLVL279
CACNA1E-------------THVDLRTLRAVRVLRPL>K<LVSGIPSLQIVLKSIMKAMVPLLQIGLLLF229
CACNA1FGRPGDAPHTGGKPGGFDVKALRAFRVLRPL>R<LVSGVPSLHIVLNSIMKALVPLLHIALLVL245
CACNA1G--------------NVSFSAVRTVRVLRPL>R<AINRVPSMRILVTLLLDTLPMLGNVLLLCF219
CACNA1H--------------NVSLSAIRTVRVLRPL>R<AINRVPSMRILVTLLLDTLPMLGNVLLLCF238
CACNA1I--------------NINLSAIRTVRVLRPL>K<AINRVPSMRILVNLLLDTLPMLGNVLLLCF217
CACNA1SVIQSHTAPMSSKGAGLDVKALRAFRVLRPL>R<LVSGVPSLQVVLNSIFKAMLPLFHIALLVL204
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 228 for SCN5A.