No paralogue variants have been mapped to residue 201 for SCN5A.
SCN5A | ESLVKILARGFCLHAFTFLRDPWNWLDFSV>I<IMAYVSENIKLG-----------------N | 214 |
SCN1A | ESLIKIIARGFCLEDFTFLRDPWNWLDFTV>I<TFAYVTEFVDLG-----------------N | 211 |
SCN2A | ESLIKILARGFCLEDFTFLRDPWNWLDFTV>I<TFAYVTEFVDLG-----------------N | 212 |
SCN3A | ESLIKILARGFCLEDFTFLRDPWNWLDFSV>I<VMAYVTEFVDLG-----------------N | 211 |
SCN4A | ESLIKILARGFCVDDFTFLRDPWNWLDFSV>I<MMAYLTEFVDLG-----------------N | 214 |
SCN7A | EILVKLFARGVWAGSFSFLGDPWNWLDFSV>T<VFEVIIRYSPLD-----------------F | 201 |
SCN8A | ESLVKIIARGFCIDGFTFLRDPWNWLDFSV>I<MMAYITEFVNLG-----------------N | 215 |
SCN9A | ESLVKILARGFCVGEFTFLRDPWNWLDFVV>I<VFAYLTEFVNLG-----------------N | 209 |
SCN10A | EALIKILARGFCLNEFTYLRDPWNWLDFSV>I<TLAYVGTAIDLR-----------------G | 210 |
SCN11A | EALIKILARGFILDEFSFLRDPWNWLDSIV>I<GIAIVSYIPGIT----------------IK | 217 |
CACNA1A | EAGIKIIALGFAFHKGSYLRNGWNVMDFVV>V<LTGILATVGTEF-----------------D | 190 |
CACNA1B | EAGIKIIALGFVFHKGSYLRNGWNVMDFVV>V<LTGILATAGTDF-----------------D | 187 |
CACNA1C | EAFLKVIAYGLLFHPNAYLRNGWNLLDFII>V<VVGLFSAILEQATKA-DGANALGGKGAGFD | 232 |
CACNA1D | ETFLKIIAYGLLLHPNAYVRNGWNLLDFVI>V<IVGLFSVILEQLTKETEGGNHSSGKSGGFD | 235 |
CACNA1E | EAGIKIVALGFIFHKGSYLRNGWNVMDFIV>V<LSGILATAGTHFN-------------THVD | 185 |
CACNA1F | ETVLKIVAYGLVLHPSAYIRNGWNLLDFII>V<VVGLFSVLLEQGPGRPGDAPHTGGKPGGFD | 201 |
CACNA1G | EMVVKMVALGI-FGKKCYLGDTWNRLDFFI>V<IAGMLEYSLDLQ---------------NVS | 175 |
CACNA1H | EMVIKMVALGL-FGQKCYLGDTWNRLDFFI>V<VAGMMEYSLDGH---------------NVS | 194 |
CACNA1I | EMVLKMVALGI-FGKKCYLGDTWNRLDFFI>V<MAGMVEYSLDLQ---------------NIN | 173 |
CACNA1S | EAAMKIIAYGFLFHQDAYLRSGWNVLDFTI>V<FLGVFTVILEQVNVIQSHTAPMSSKGAGLD | 160 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I201V | c.601A>G | Putative Benign | rs368599832 | SIFT: tolerated Polyphen: possibly damaging |