No paralogue variants have been mapped to residue 2002 for SCN5A.
SCN5A | ------------------------------>A<------------------------------ | 2002 |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
SCN10A | ------------------------------>A<------------------------------ | 1946 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ----GAQTSLPAFSP---GRLSRGLSEHNA>-<----LLQRDPL--SQPL----APGSRIG-- | 2256 |
CACNA1C | ARRVRPVSLMVPSQA---GAPGRQFHGSAS>S<LVEA-----VL--ISEG----LGQFAQD-- | 2052 |
CACNA1D | YRTFTPASLTVPSSF---RNKNSDKQRSAD>S<LVEA-----VL--ISEG----LGRYARD-- | 2097 |
CACNA1E | ----PPADGSEEGSP---LT-SQALESNNA>C<LTESSNSPHPQ--QSQH----ASPQRYI-- | 2228 |
CACNA1F | LRTFT--CLHVPGTH---SDPSHGKRGSAD>S<LVEA-----VL--ISEG----LGLFARD-- | 1914 |
CACNA1G | SQPHLGTDPSNLGG---QPLGGPGSRPKKK>L<SPPS-----IT--IDPP----ESQGPRT-- | 2323 |
CACNA1H | ------GEAKAWGP---EAEPALGARRKKK>M<SPPC-----I--SVEPPAEDEGSARPSAAE | 2210 |
CACNA1I | CTHHDSMDPSDEEGRGGAGGGGAGSEHSET>L<SSLS-----LTSLFCPP----PP------- | 2141 |
CACNA1S | ---------HSRSTR---ENTSRCSAPATA>L<LIQK-----AL--VRGG----LGTLAAD-- | 1803 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2002S | c.6004G>T | Putative Benign | SIFT: Polyphen: | ||
p.Ala2002Thr | c.6004G>A | Unknown | SIFT: Polyphen: |