Paralogue Annotation for SCN5A residue 271

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 271
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 271

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AL266MFebrile seizuresHigh9 23895530

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.



SCN5AGALIQSVKKLADVMVLTVFCLSVFALIGLQ>L<FMGNLRHKCVR-------------------282
SCN1AGALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLRNKCIQ-WP-PTNASLEEH-SI-EK294
SCN2AGALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLRNKCLQ-WP-PDNSSFEIN-ITSFF296
SCN3AGALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLRNKCLQ-WP-PSDSAFETN-TTSYF295
SCN4AGALIQSVKKLSDVMILTVFCLSVFALVGLQ>L<FMGNLRQKCVR-WP-PPFN--DTN-TTWYS296
SCN7AGVLIHCLKQLIGVIILTLFFLSIFSLIGMG>L<FMGNLKHKCFR-WP-QENE-----------275
SCN8AGALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLRNKCVV-WP----------------285
SCN9AGALIQSVKKLSDVMILTVFCLSVFALIGLQ>L<FMGNLKHKCFR-NS----------------279
SCN10AGALIHSVKKLADVTILTIFCLSVFALVGLQ>L<FKGNLKNKCVK-N-----------------279
SCN11AGALLRSVKKLVNVIILTFFCLSIFALVGQQ>L<FMGSLNLKCIS-R-----------------286
CACNA1AKSIMKAMIPLLQIGLLLFFAILIFAIIGLE>F<YMGKFHTTCFE-E-GTD------------D263
CACNA1BKSIMKAMVPLLQIGLLLFFAILMFAIIGLE>F<YMGKFHKACFP-N-STD------------A260
CACNA1CNSIIKAMVPLLHIALLVLFVIIIYAIIGLE>L<FMGKMHKTCYNQEGIAD-------------306
CACNA1DNSIIKAMVPLLHIALLVLFVIIIYAIIGLE>L<FIGKMHKTCFF-A-DSD-------------307
CACNA1EKSIMKAMVPLLQIGLLLFFAILMFAIIGLE>F<YSGKLHRACFM-N-NSG------------I258
CACNA1FNSIMKALVPLLHIALLVLFVIIIYAIIGLE>L<FLGRMHKTCYF-L-GSD-------------273
CACNA1GTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQ>L<WAGLLRNRCFL-P-ENFSLPLSVD-LE-RY258
CACNA1HTLLLDTLPMLGNVLLLCFFVFFIFGIVGVQ>L<WAGLLRNRCFL-D-SAFVRNNNLTFLR-PY278
CACNA1INLLLDTLPMLGNVLLLCFFVFFIFGIIGVQ>L<WAGLLRNRCFL-E-ENFTIQGDVA-LP-PY256
CACNA1SNSIFKAMLPLFHIALLVLFMVIIYAIIGLE>L<FKGKMHKTCYF-I-GTD-------------232
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 271 for SCN5A.