No paralogue variants have been mapped to residue 1061 for SCN5A.
SCN5A | IAVAESD------TDD------------QE>E<D----------------------------- | 1062 |
SCN1A | IAVGESD------FEN------------LN>T<E----------------------------- | 1130 |
SCN2A | IAVGESD------FEN------------LN>T<E----------------------------- | 1120 |
SCN3A | IAVGESD------FEN------------LN>T<E----------------------------- | 1118 |
SCN4A | IASEESD------LEM------------PT>E<E----------------------------- | 939 |
SCN7A | IASGESD------IEN------------LD>N<K----------------------------- | 851 |
SCN8A | IAVGESD------FEN------------LN>T<E----------------------------- | 1111 |
SCN9A | IAPGESD------LEN------------MN>A<E----------------------------- | 1093 |
SCN10A | IAEGESD------LDD------------LE>D<DGGEDAQ----SFQQEVIPKGQQE-QLQQ- | 1035 |
SCN11A | LAEEEDD------VEF------------SG>E<D----------------------------- | 932 |
CACNA1A | SGSPRTG------ADGEHRRHRAHRR--PG>E<EGP-EDKAE--RRARHREGSRPARGG-EGE | 993 |
CACNA1B | RGSPEEA------AEREPRRHRAHRH--QD>P<SKE-CAGAKGERRARHRG-G--PR---AGP | 967 |
CACNA1C | ----------------------EEKIELKS>I<T---------------------ADG----- | 813 |
CACNA1D | ----------------------------NQ>I<A---------------------NSD----- | 820 |
CACNA1E | RRSRHRRVRTEGKESSSASRSRSASQERSL>D<EAM-PTEGE--KDHELRGNHG-A----KEP | 971 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | SGERRSL------LSG------------EG>Q<ESQ-DEEES--SEEERASPAG----SD--- | 1157 |
CACNA1H | CGERESL------LSG------------EG>K<GST-DDEAE--DGRAAPGPRA----TP--- | 1192 |
CACNA1I | SAEHESL------LSA------------ER>G<GGARVCE----VAADEGPPRAAPL-HTPHA | 1037 |
CACNA1S | ----------------------------EQ>K<P---------------------KGE----- | 712 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1061D | c.3183A>C | Putative Benign | SIFT: Polyphen: |