No paralogue variants have been mapped to residue 227 for SCN5A.
SCN5A | -----------------NLSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLADVMVLT | 257 |
SCN1A | -----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT | 254 |
SCN2A | -----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT | 255 |
SCN3A | -----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT | 254 |
SCN4A | -----------------NISALRTFRVLRA>L<KTITVIPGLKTIVGALIQSVKKLSDVMILT | 257 |
SCN7A | -----------------FIPTLQTARTLRI>L<KIIPLNQGLKSLVGVLIHCLKQLIGVIILT | 244 |
SCN8A | -----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT | 258 |
SCN9A | -----------------NVSALRTFRVLRA>L<KTISVIPGLKTIVGALIQSVKKLSDVMILT | 252 |
SCN10A | -----------------GISGLRTFRVLRA>L<KTVSVIPGLKVIVGALIHSVKKLADVTILT | 253 |
SCN11A | ----------------IKLLPLRTFRVFRA>L<KAISVVSRLKVIVGALLRSVKKLVNVIILT | 260 |
CACNA1A | -----------------DLRTLRAVRVLRP>L<KLVSGIPSLQVVLKSIMKAMIPLLQIGLLL | 233 |
CACNA1B | -----------------DLRTLRAVRVLRP>L<KLVSGIPSLQVVLKSIMKAMVPLLQIGLLL | 230 |
CACNA1C | TKA-DGANALGGKGAGFDVKALRAFRVLRP>L<RLVSGVPSLQVVLNSIIKAMVPLLHIALLV | 275 |
CACNA1D | TKETEGGNHSSGKSGGFDVKALRAFRVLRP>L<RLVSGVPSLQVVLNSIIKAMVPLLHIALLV | 278 |
CACNA1E | N-------------THVDLRTLRAVRVLRP>L<KLVSGIPSLQIVLKSIMKAMVPLLQIGLLL | 228 |
CACNA1F | PGRPGDAPHTGGKPGGFDVKALRAFRVLRP>L<RLVSGVPSLHIVLNSIMKALVPLLHIALLV | 244 |
CACNA1G | ---------------NVSFSAVRTVRVLRP>L<RAINRVPSMRILVTLLLDTLPMLGNVLLLC | 218 |
CACNA1H | ---------------NVSLSAIRTVRVLRP>L<RAINRVPSMRILVTLLLDTLPMLGNVLLLC | 237 |
CACNA1I | ---------------NINLSAIRTVRVLRP>L<KAINRVPSMRILVNLLLDTLPMLGNVLLLC | 216 |
CACNA1S | NVIQSHTAPMSSKGAGLDVKALRAFRVLRP>L<RLVSGVPSLQVVLNSIFKAMLPLFHIALLV | 203 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L227P | c.680T>C | Putative Benign | SIFT: Polyphen: |