No paralogue variants have been mapped to residue 1523 for SCN5A.
SCN5A | G-SKKP--------QKPIPRPLNKYQGFIF>D<IVTKQAFDVTIMFLICLNMVTMMVETDDQS | 1553 |
SCN1A | G-SKKP--------QKPIPRPGNKFQGMVF>D<FVTRQVFDISIMILICLNMVTMMVETDDQS | 1566 |
SCN2A | G-SKKP--------QKPIPRPANKFQGMVF>D<FVTKQVFDISIMILICLNMVTMMVETDDQS | 1556 |
SCN3A | G-SKKP--------QKPIPRPANKFQGMVF>D<FVTRQVFDISIMILICLNMVTMMVETDDQG | 1551 |
SCN4A | G-SKKP--------QKPIPRPQNKIQGMVY>D<LVTKQAFDITIMILICLNMVTMMVETDNQS | 1378 |
SCN7A | M-YEDS--------QRPVPRPLNKLQGFIF>D<VVTSQAFNVIVMVLICFQAIAMMIDTDVQS | 1276 |
SCN8A | G-SKKP--------QKPIPRPLNKIQGIVF>D<FVTQQAFDIVIMMLICLNMVTMMVETDTQS | 1547 |
SCN9A | G-SKKP--------QKPIPRPGNKIQGCIF>D<LVTNQAFDISIMVLICLNMVTMMVEKEGQS | 1529 |
SCN10A | G-SKKP--------QKPIPRPLNKFQGFVF>D<IVTRQAFDITIMVLICLNMITMMVETDDQS | 1501 |
SCN11A | G-SKKP--------QKPIPRPLNKCQGLVF>D<IVTSQIFDIIIISLIILNMISMMAESYNQP | 1391 |
CACNA1A | --SAKP-------LTRHMPQNKQSFQYRMW>Q<FVVSPPFEYTIMAMIALNTIVLMMKFYGAS | 1591 |
CACNA1B | --SAKP-------LTRYMPQNRQSFQYKTW>T<FVVSPPFEYFIMAMIALNTVVLMMKFYDAP | 1497 |
CACNA1C | --KARP-------LRRYIPK--NQHQYKVW>Y<VVNSTYFEYLMFVLILLNTICLAMQHYGQS | 1244 |
CACNA1D | --KARP-------LRRYIPK--NPYQYKFW>Y<VVNSSPFEYMMFVLIMLNTLCLAMQHYEQS | 1250 |
CACNA1E | --SAKP-------LTRYMPQNRHTFQYRVW>H<FVVSPSFEYTIMAMIALNTVVLMMKYYSAP | 1503 |
CACNA1F | --KAQP-------LRRYIPK--NPHQYRVW>A<TVNSAAFEYLMFLLILLNTVALAMQHYEQT | 1215 |
CACNA1G | -ASGSSASAASEAQCKPYYSDYSRFRLLVH>H<LCTSHYLDLFITGVIGLNVVTMAMEHYQQP | 1636 |
CACNA1H | SPEAQ---------RRPYYADYSPTRRSIH>S<LCTSHYLDLFITFIICVNVITMSMEHYNQP | 1642 |
CACNA1I | --KAQ---------RLPYYATYCHTRLLIH>S<MCTSHYLDIFITFIICLNVVTMSLEHYNQP | 1512 |
CACNA1S | --KARP-------LRCYIPK--NPYQYQVW>Y<IVTSSYFEYLMFALIMLNTICLGMQHYNQS | 1143 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1523N | c.4567G>A | Putative Benign | SIFT: Polyphen: |