No paralogue variants have been mapped to residue 205 for SCN5A.
SCN5A | KILARGFCLHAFTFLRDPWNWLDFSVIIMA>Y<VSENIKLG-----------------NLSAL | 218 |
SCN1A | KIIARGFCLEDFTFLRDPWNWLDFTVITFA>Y<VTEFVDLG-----------------NVSAL | 215 |
SCN2A | KILARGFCLEDFTFLRDPWNWLDFTVITFA>Y<VTEFVDLG-----------------NVSAL | 216 |
SCN3A | KILARGFCLEDFTFLRDPWNWLDFSVIVMA>Y<VTEFVDLG-----------------NVSAL | 215 |
SCN4A | KILARGFCVDDFTFLRDPWNWLDFSVIMMA>Y<LTEFVDLG-----------------NISAL | 218 |
SCN7A | KLFARGVWAGSFSFLGDPWNWLDFSVTVFE>V<IIRYSPLD-----------------FIPTL | 205 |
SCN8A | KIIARGFCIDGFTFLRDPWNWLDFSVIMMA>Y<ITEFVNLG-----------------NVSAL | 219 |
SCN9A | KILARGFCVGEFTFLRDPWNWLDFVVIVFA>Y<LTEFVNLG-----------------NVSAL | 213 |
SCN10A | KILARGFCLNEFTYLRDPWNWLDFSVITLA>Y<VGTAIDLR-----------------GISGL | 214 |
SCN11A | KILARGFILDEFSFLRDPWNWLDSIVIGIA>I<VSYIPGIT----------------IKLLPL | 221 |
CACNA1A | KIIALGFAFHKGSYLRNGWNVMDFVVVLTG>I<LATVGTEF-----------------DLRTL | 194 |
CACNA1B | KIIALGFVFHKGSYLRNGWNVMDFVVVLTG>I<LATAGTDF-----------------DLRTL | 191 |
CACNA1C | KVIAYGLLFHPNAYLRNGWNLLDFIIVVVG>L<FSAILEQATKA-DGANALGGKGAGFDVKAL | 236 |
CACNA1D | KIIAYGLLLHPNAYVRNGWNLLDFVIVIVG>L<FSVILEQLTKETEGGNHSSGKSGGFDVKAL | 239 |
CACNA1E | KIVALGFIFHKGSYLRNGWNVMDFIVVLSG>I<LATAGTHFN-------------THVDLRTL | 189 |
CACNA1F | KIVAYGLVLHPSAYIRNGWNLLDFIIVVVG>L<FSVLLEQGPGRPGDAPHTGGKPGGFDVKAL | 205 |
CACNA1G | KMVALGI-FGKKCYLGDTWNRLDFFIVIAG>M<LEYSLDLQ---------------NVSFSAV | 179 |
CACNA1H | KMVALGL-FGQKCYLGDTWNRLDFFIVVAG>M<MEYSLDGH---------------NVSLSAI | 198 |
CACNA1I | KMVALGI-FGKKCYLGDTWNRLDFFIVMAG>M<VEYSLDLQ---------------NINLSAI | 177 |
CACNA1S | KIIAYGFLFHQDAYLRSGWNVLDFTIVFLG>V<FTVILEQVNVIQSHTAPMSSKGAGLDVKAL | 164 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y205H | c.613T>C | Putative Benign | SIFT: deleterious Polyphen: probably damaging |