No paralogue variants have been mapped to residue 245 for SCN5A.
SCN5A | LSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLADVMVLTVFCLSVFALIGLQLFMGN | 275 |
SCN1A | VSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN | 272 |
SCN2A | VSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN | 273 |
SCN3A | VSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN | 272 |
SCN4A | ISALRTFRVLRALKTITVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALVGLQLFMGN | 275 |
SCN7A | IPTLQTARTLRILKIIPLNQGLKSLVGVLI>H<CLKQLIGVIILTLFFLSIFSLIGMGLFMGN | 262 |
SCN8A | VSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN | 276 |
SCN9A | VSALRTFRVLRALKTISVIPGLKTIVGALI>Q<SVKKLSDVMILTVFCLSVFALIGLQLFMGN | 270 |
SCN10A | ISGLRTFRVLRALKTVSVIPGLKVIVGALI>H<SVKKLADVTILTIFCLSVFALVGLQLFKGN | 271 |
SCN11A | LLPLRTFRVFRALKAISVVSRLKVIVGALL>R<SVKKLVNVIILTFFCLSIFALVGQQLFMGS | 278 |
CACNA1A | LRTLRAVRVLRPLKLVSGIPSLQVVLKSIM>K<AMIPLLQIGLLLFFAILIFAIIGLEFYMGK | 251 |
CACNA1B | LRTLRAVRVLRPLKLVSGIPSLQVVLKSIM>K<AMVPLLQIGLLLFFAILMFAIIGLEFYMGK | 248 |
CACNA1C | VKALRAFRVLRPLRLVSGVPSLQVVLNSII>K<AMVPLLHIALLVLFVIIIYAIIGLELFMGK | 293 |
CACNA1D | VKALRAFRVLRPLRLVSGVPSLQVVLNSII>K<AMVPLLHIALLVLFVIIIYAIIGLELFIGK | 296 |
CACNA1E | LRTLRAVRVLRPLKLVSGIPSLQIVLKSIM>K<AMVPLLQIGLLLFFAILMFAIIGLEFYSGK | 246 |
CACNA1F | VKALRAFRVLRPLRLVSGVPSLHIVLNSIM>K<ALVPLLHIALLVLFVIIIYAIIGLELFLGR | 262 |
CACNA1G | FSAVRTVRVLRPLRAINRVPSMRILVTLLL>D<TLPMLGNVLLLCFFVFFIFGIVGVQLWAGL | 236 |
CACNA1H | LSAIRTVRVLRPLRAINRVPSMRILVTLLL>D<TLPMLGNVLLLCFFVFFIFGIVGVQLWAGL | 255 |
CACNA1I | LSAIRTVRVLRPLKAINRVPSMRILVNLLL>D<TLPMLGNVLLLCFFVFFIFGIIGVQLWAGL | 234 |
CACNA1S | VKALRAFRVLRPLRLVSGVPSLQVVLNSIF>K<AMLPLFHIALLVLFMVIIYAIIGLELFKGK | 221 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q245K | c.733C>A | Inherited Arrhythmia | LQTS | rs199473077 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 |