Paralogue Annotation for SCN5A residue 272

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 272
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 272

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AY248CEpisodic ataxia 2Medium9 18602318

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.



SCN5AALIQSVKKLADVMVLTVFCLSVFALIGLQL>F<MGNLRHKCVR--------------------282
SCN1AALIQSVKKLSDVMILTVFCLSVFALIGLQL>F<MGNLRNKCIQ-WP-PTNASLEEH-SI-EKN295
SCN2AALIQSVKKLSDVMILTVFCLSVFALIGLQL>F<MGNLRNKCLQ-WP-PDNSSFEIN-ITSFFN297
SCN3AALIQSVKKLSDVMILTVFCLSVFALIGLQL>F<MGNLRNKCLQ-WP-PSDSAFETN-TTSYFN296
SCN4AALIQSVKKLSDVMILTVFCLSVFALVGLQL>F<MGNLRQKCVR-WP-PPFN--DTN-TTWYSN297
SCN7AVLIHCLKQLIGVIILTLFFLSIFSLIGMGL>F<MGNLKHKCFR-WP-QENE------------275
SCN8AALIQSVKKLSDVMILTVFCLSVFALIGLQL>F<MGNLRNKCVV-WP-----------------285
SCN9AALIQSVKKLSDVMILTVFCLSVFALIGLQL>F<MGNLKHKCFR-NS-----------------279
SCN10AALIHSVKKLADVTILTIFCLSVFALVGLQL>F<KGNLKNKCVK-N------------------279
SCN11AALLRSVKKLVNVIILTFFCLSIFALVGQQL>F<MGSLNLKCIS-R------------------286
CACNA1ASIMKAMIPLLQIGLLLFFAILIFAIIGLEF>Y<MGKFHTTCFE-E-GTD------------DI264
CACNA1BSIMKAMVPLLQIGLLLFFAILMFAIIGLEF>Y<MGKFHKACFP-N-STD------------A-260
CACNA1CSIIKAMVPLLHIALLVLFVIIIYAIIGLEL>F<MGKMHKTCYNQEGIAD-------------V307
CACNA1DSIIKAMVPLLHIALLVLFVIIIYAIIGLEL>F<IGKMHKTCFF-A-DSD-------------I308
CACNA1ESIMKAMVPLLQIGLLLFFAILMFAIIGLEF>Y<SGKLHRACFM-N-NSG------------IL259
CACNA1FSIMKALVPLLHIALLVLFVIIIYAIIGLEL>F<LGRMHKTCYF-L-GSD-------------M274
CACNA1GLLLDTLPMLGNVLLLCFFVFFIFGIVGVQL>W<AGLLRNRCFL-P-ENFSLPLSVD-LE-RYY259
CACNA1HLLLDTLPMLGNVLLLCFFVFFIFGIVGVQL>W<AGLLRNRCFL-D-SAFVRNNNLTFLR-PYY279
CACNA1ILLLDTLPMLGNVLLLCFFVFFIFGIIGVQL>W<AGLLRNRCFL-E-ENFTIQGDVA-LP-PYY257
CACNA1SSIFKAMLPLFHIALLVLFMVIIYAIIGLEL>F<KGKMHKTCYF-I-GTD-------------I233
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 272 for SCN5A.