No paralogue variants have been mapped to residue 164 for SCN5A.
SCN5A | TNCVFMAQH------D-PPPWT--KYVEYT>F<TA-IYTFESLVKILARGFCLHAFTFLRDPW | 193 |
SCN1A | TNCVFMTMS------N-PPDWT--KNVEYT>F<TG-IYTFESLIKIIARGFCLEDFTFLRDPW | 190 |
SCN2A | TNCVFMTMS------N-PPDWT--KNVEYT>F<TG-IYTFESLIKILARGFCLEDFTFLRDPW | 191 |
SCN3A | TNCVFMTLS------N-PPDWT--KNVEYT>F<TG-IYTFESLIKILARGFCLEDFTFLRDPW | 190 |
SCN4A | TNCVFMTMS------D-PPPWS--KNVEYT>F<TG-IYTFESLIKILARGFCVDDFTFLRDPW | 193 |
SCN7A | IDCVFMSLT------N-LPKWR--PVLENT>L<LG-IYTFEILVKLFARGVWAGSFSFLGDPW | 180 |
SCN8A | TNCVFMTFS------N-PPDWS--KNVEYT>F<TG-IYTFESLVKIIARGFCIDGFTFLRDPW | 194 |
SCN9A | TNCIFMTMN------N-PPDWT--KNVEYT>F<TG-IYTFESLVKILARGFCVGEFTFLRDPW | 188 |
SCN10A | VNCVCMTRT------D-LPE-----KIEYV>F<TV-IYTFEALIKILARGFCLNEFTYLRDPW | 189 |
SCN11A | INCVFMATGPA-K--NSNSNNT--DIAECV>F<TG-IYIFEALIKILARGFILDEFSFLRDPW | 195 |
CACNA1A | ANCIVLALEQHLPDDDKTPMSERLDDTEPY>F<IG-IFCFEAGIKIIALGFAFHKGSYLRNGW | 169 |
CACNA1B | ANCIVLALEQHLPDGDKTPMSERLDDTEPY>F<IG-IFCFEAGIKIIALGFVFHKGSYLRNGW | 166 |
CACNA1C | ANCVALAIYIPFPEDDSNATNSNLERVEYL>F<LI-IFTVEAFLKVIAYGLLFHPNAYLRNGW | 195 |
CACNA1D | ANCVALAIYIPFPEDDSNSTNHNLEKVEYA>F<LI-IFTVETFLKIIAYGLLLHPNAYVRNGW | 197 |
CACNA1E | ANCIVLALEQHLPEDDKTPMSRRLEKTEPY>F<IG-IFCFEAGIKIVALGFIFHKGSYLRNGW | 160 |
CACNA1F | ANCVALGVYIPFPEDDSNTANHNLEQVEYV>F<LV-IFTVETVLKIVAYGLVLHPSAYIRNGW | 163 |
CACNA1G | LNCVTLGMFRPCEDIACDSQRCRILQAFDD>F<IFAFFAVEMVVKMVALGI-FGKKCYLGDTW | 152 |
CACNA1H | LNCVTLGMFRPCEDVECGSERCNILEAFDA>F<IFAFFAVEMVIKMVALGL-FGQKCYLGDTW | 171 |
CACNA1I | LNCVTLGMYQPCDDMDCLSDRCKILQVFDD>F<IFIFFAMEMVLKMVALGI-FGKKCYLGDTW | 150 |
CACNA1S | ANCVALAVYLPMPEDDNNSLNLGLEKLEYF>F<LI-VFSIEAAMKIIAYGFLFHQDAYLRSGW | 122 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F164S | c.491T>C | Putative Benign | rs77772646 | SIFT: deleterious Polyphen: probably damaging |