Paralogue Annotation for SCN5A residue 727

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 727
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 727

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AI588VMyotonia & periodic paralysisHigh9 25348630, 25348630

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.



SCN5AWECCPLWMSIKQGVKLVVMDPFTDLTITMC>I<VLNTLFMALEHYNMTSEFEEMLQVGNLVFT757
SCN1AWDCSPYWLKVKHVVNLVVMDPFVDLAITIC>I<VLNTLFMAMEHYPMTDHFNNVLTVGNLVFT808
SCN2AWDCCKPWLKVKHLVNLVVMDPFVDLAITIC>I<VLNTLFMAMEHYPMTEQFSSVLSVGNLVFT799
SCN3AWDCCDAWLKVKHLVNLIVMDPFVDLAITIC>I<VLNTLFMAMEHYPMTEQFSSVLTVGNLVFT800
SCN4AWNCCAPWLKFKNIIHLIVMDPFVDLGITIC>I<VLNTLFMAMEHYPMTEHFDNVLTVGNLVFT618
SCN7AWNCSPCWLKLKEFVHRIIMAPFTDLFLIIC>I<ILNVCFLTLEHYPMSKQTNTLLNIGNLVFI545
SCN8AWECHPYWIKLKEIVNLIVMDPFVDLAITIC>I<VLNTLFMAMEHHPMTPQFEHVLAVGNLVFT793
SCN9AWNCSPYWIKFKKCIYFIVMDPFVDLAITIC>I<VLNTLFMAMEHHPMTEEFKNVLAIGNLVFT773
SCN10AWDCCPMWVKLKTILFGLVTDPFAELTITLC>I<VVNTIFMAMEHHGMSPTFEAMLQIGNIVFT705
SCN11AWNCCPQWLCVKKVLRTVMTDPFTELAITIC>I<IINTVFLAMEHHKMEASFEKMLNIGNLVFT617
CACNA1ATFFHKKERRMRFYIRRMVKTQAFYWTVLSL>V<ALNTLCVAIVHYNQPEWLSDFLYYAEFIFL527
CACNA1BSYFRRKEKMFRFFIRRMVKAQSFYWVVLCV>V<ALNTLCVAMVHYNQPRRLTTTLYFAEFVFL523
CACNA1CRYWRRWNRFCRRKCRAAVKSNVFYWLVIFL>V<FLNTLTIASEHYNQPNWLTEVQDTANKALL564
CACNA1DRRWRRWNRFNRRRCRAAVKSVTFYWLVIVL>V<FLNTLTISSEHYNQPDWLTQIQDIANKVLL583
CACNA1ESYFRHKERLLRISIRHMVKSQVFYWIVLSL>V<ALNTACVAIVHHNQPQWLTHLLYYAEFLFL516
CACNA1FRRLRRANRVLRARCRRAVKSNACYWAVLLL>V<FLNTLTIASEHHGQPVWLTQIQEYANKVLL569
CACNA1GSSVLAFWRLICDTFRKIVDSKYFGRGIMIA>I<LVNTLSMGIEYHEQPEELTNALEISNIVFT783
CACNA1HGWMGRLWVTFSGKLRRIVDSKYFSRGIMMA>I<LVNTLSMGVEYHEQPEELTNALEISNIVFT833
CACNA1IWLCGDVWRETRAKLRGIVDSKYFNRGIMMA>I<LVNTVSMGIEHHEQPEELTNILEICNVVFT680
CACNA1SRHWRQWNRIFRWKCHDIVKSKVFYWLVILI>V<ALNTLSIASEHHNQPLWLTRLQDIANRVLL472
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 727 for SCN5A.