No paralogue variants have been mapped to residue 1142 for SCN5A.
SCN5A | ETPE------------------DSCSEGST>A<DMTNTAELLEQIPDLGQDVKDP-------- | 1164 |
SCN1A | LNES------------------SSSSEGST>V<DIGAPVE--EQPVVEPEETLEP-------- | 1177 |
SCN2A | LN-A------------------TSSSEGST>V<DIGAPAEG-EQPEVEPEESLEP-------- | 1167 |
SCN3A | LN-A------------------TSSSEGST>V<DVVLPREG-EQAETEPEEDLKP-------- | 1165 |
SCN4A | LY-D------------------GNSSVCST>A<DYKPPEEDPEEQAEENPEGEQP-------- | 990 |
SCN7A | IK-Q------------------SSSSECST>V<DIAISEEE--EM----FYGGER-------- | 893 |
SCN8A | LD-D------------------TSSSEGST>I<DIKPEVE--EVPVEQPEEYLDP-------- | 1157 |
SCN9A | LN-R------------------SSSSECST>V<DNPLPGEG-EEAEAEPMNSDEP-------- | 1140 |
SCN10A | VD-D------------------TSSSEGST>V<DCLDPEEILRKIPELADDLEEP-------- | 1111 |
SCN11A | SD-V-----------------TSILSECST>I<DLQDGFG--WLP--EMVPKKQP-------- | 1015 |
CACNA1A | TP-ENSLIVTNPSGTQTNSAKTARKPDHTT>V<DIPPACPPPL---------NHTVVQVNKNA | 1190 |
CACNA1B | QK-VEEQPEDADNQRNVTRMGSQPPDPNTI>V<HIPVMLTGPL---------GEATVVPSGNV | 1100 |
CACNA1C | ------------------------------>-<-------RPL---------SEL-------- | 865 |
CACNA1D | ------------------------------>-<-------RRI---------SEL-------- | 871 |
CACNA1E | TT-ESTSVTVAIPDVDP-------LVDSTV>V<HISNKTDG------------EASPLKEAEI | 1104 |
CACNA1F | ------------------------------>-<-------ELL---------QEV-------- | 836 |
CACNA1G | ------------------------------>-<-------RAW---------IRA-------- | 1242 |
CACNA1H | ------------------------------>-<-------HKV---------LEP-------- | 1260 |
CACNA1I | ------------------------------>-<-------RKM---------IDV-------- | 1136 |
CACNA1S | ------------------------------>-<-------RPL---------AEL-------- | 764 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala1142Val | c.3425C>T | Unknown | SIFT: Polyphen: |