No paralogue variants have been mapped to residue 251 for SCN5A.
SCN5A | FRVLRALKTISVIPGLKTIVGALIQSVKKL>A<DVMVLTVFCLSVFALIGLQLFMGNLRHKCV | 281 |
SCN1A | FRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLRNKCI | 278 |
SCN2A | FRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLRNKCL | 279 |
SCN3A | FRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLRNKCL | 278 |
SCN4A | FRVLRALKTITVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALVGLQLFMGNLRQKCV | 281 |
SCN7A | ARTLRILKIIPLNQGLKSLVGVLIHCLKQL>I<GVIILTLFFLSIFSLIGMGLFMGNLKHKCF | 268 |
SCN8A | FRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLRNKCV | 282 |
SCN9A | FRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLKHKCF | 276 |
SCN10A | FRVLRALKTVSVIPGLKVIVGALIHSVKKL>A<DVTILTIFCLSVFALVGLQLFKGNLKNKCV | 277 |
SCN11A | FRVFRALKAISVVSRLKVIVGALLRSVKKL>V<NVIILTFFCLSIFALVGQQLFMGSLNLKCI | 284 |
CACNA1A | VRVLRPLKLVSGIPSLQVVLKSIMKAMIPL>L<QIGLLLFFAILIFAIIGLEFYMGKFHTTCF | 257 |
CACNA1B | VRVLRPLKLVSGIPSLQVVLKSIMKAMVPL>L<QIGLLLFFAILMFAIIGLEFYMGKFHKACF | 254 |
CACNA1C | FRVLRPLRLVSGVPSLQVVLNSIIKAMVPL>L<HIALLVLFVIIIYAIIGLELFMGKMHKTCY | 299 |
CACNA1D | FRVLRPLRLVSGVPSLQVVLNSIIKAMVPL>L<HIALLVLFVIIIYAIIGLELFIGKMHKTCF | 302 |
CACNA1E | VRVLRPLKLVSGIPSLQIVLKSIMKAMVPL>L<QIGLLLFFAILMFAIIGLEFYSGKLHRACF | 252 |
CACNA1F | FRVLRPLRLVSGVPSLHIVLNSIMKALVPL>L<HIALLVLFVIIIYAIIGLELFLGRMHKTCY | 268 |
CACNA1G | VRVLRPLRAINRVPSMRILVTLLLDTLPML>G<NVLLLCFFVFFIFGIVGVQLWAGLLRNRCF | 242 |
CACNA1H | VRVLRPLRAINRVPSMRILVTLLLDTLPML>G<NVLLLCFFVFFIFGIVGVQLWAGLLRNRCF | 261 |
CACNA1I | VRVLRPLKAINRVPSMRILVNLLLDTLPML>G<NVLLLCFFVFFIFGIIGVQLWAGLLRNRCF | 240 |
CACNA1S | FRVLRPLRLVSGVPSLQVVLNSIFKAMLPL>F<HIALLVLFMVIIYAIIGLELFKGKMHKTCY | 227 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A251D | c.752C>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging |