No paralogue variants have been mapped to residue 1154 for SCN5A.
SCN5A | ----------DSCSEGSTADMTNTAELLEQ>I<PDLGQDVKDP------------------ED | 1166 |
SCN1A | ----------SSSSEGSTVDIGAPVE--EQ>P<VVEPEETLEP------------------EA | 1179 |
SCN2A | ----------TSSSEGSTVDIGAPAEG-EQ>P<EVEPEESLEP------------------EA | 1169 |
SCN3A | ----------TSSSEGSTVDVVLPREG-EQ>A<ETEPEEDLKP------------------EA | 1167 |
SCN4A | ----------GNSSVCSTADYKPPEEDPEE>Q<AEENPEGEQP------------------EE | 992 |
SCN7A | ----------SSSSECSTVDIAISEEE--E>M<----FYGGER------------------SK | 895 |
SCN8A | ----------TSSSEGSTIDIKPEVE--EV>P<VEQPEEYLDP------------------DA | 1159 |
SCN9A | ----------SSSSECSTVDNPLPGEG-EE>A<EAEPMNSDEP------------------EA | 1142 |
SCN10A | ----------TSSSEGSTVDCLDPEEILRK>I<PELADDLEEP------------------DD | 1113 |
SCN11A | ---------TSILSECSTIDLQDGFG--WL>P<--EMVPKKQP------------------ER | 1017 |
CACNA1A | SGTQTNSAKTARKPDHTTVDIPPACPPPL->-<-------NHTVVQVNKNANPDPLPKKEEEK | 1202 |
CACNA1B | NQRNVTRMGSQPPDPNTIVHIPVMLTGPL->-<-------GEATVVPSGNVD---LESQAEGK | 1109 |
CACNA1C | --------------------------RPL->-<-------SEL----------H--------- | 866 |
CACNA1D | --------------------------RRI->-<-------SEL----------N--------- | 872 |
CACNA1E | PDVDP-------LVDSTVVHISNKTDG--->-<--------EASPLKEAEI----REDEEEVE | 1112 |
CACNA1F | --------------------------ELL->-<-------QEV----------V--------- | 837 |
CACNA1G | --------------------------RAW->-<-------IRA----------R--------- | 1243 |
CACNA1H | --------------------------HKV->-<-------LEP----------Y--------- | 1261 |
CACNA1I | --------------------------RKM->-<-------IDV----------Y--------- | 1137 |
CACNA1S | --------------------------RPL->-<-------AEL----------Q--------- | 765 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1154N | c.3461T>A | Putative Benign | SIFT: tolerated Polyphen: benign |