No paralogue variants have been mapped to residue 1942 for SCN5A.
SCN5A | KHA-SFLFRQ---------QAGSGLSEEDA>P<EREGL-IAYVM------------------- | 1952 |
SCN1A | KQA-SFTYNK---------NKIKG--GANL>L<IKEDM-IIDRI------------------- | 1964 |
SCN2A | KKV-SSIYKK---------DKGKE--CDGT>P<IKEDT-LIDKL------------------- | 1954 |
SCN3A | KNI-SSNYNK---------EAIKG--RIDL>P<IKQDM-IIDKL------------------- | 1949 |
SCN4A | KQA-SYMYRH---------SHDGS--GDDA>P<EKEGL-LANTM-SKMY-------------- | 1780 |
SCN7A | KNT-SDIHMI---------DGDR----DVH>A<TKEGA-YFDKA------------------- | 1672 |
SCN8A | IC---------------------------->-<-KKTT-SNKLE------------------- | 1926 |
SCN9A | KNI-SSIYIK---------DGDRD---DDL>L<NKKDM-AFDNV------------------- | 1926 |
SCN10A | ALS-NTPCVP---------RAEEE---AAS>L<PDEGF-VAFTA------------------- | 1899 |
SCN11A | GDQ-G-D--Q-------------------->-<--NDL-----E------------------- | 1763 |
CACNA1A | AMR-E---EQDRTPLMFQRMEPPS------>P<TQ-------EG-GP-G-------QNALPS- | 2009 |
CACNA1B | QAPGG---LS----QMGPVSLFHP------>L<KATLE-QT-QPAVLRGARVFLR-QKS--S- | 1918 |
CACNA1C | GLV-GK--PS--------QRNALS-L-QAG>L<RTL-H-DIGPE-IRRA-------ISG---- | 1671 |
CACNA1D | GLV-GK-YPA--------KNTTIA-L-QAG>L<RTL-H-DIGPE-IRRA-------ISC---- | 1680 |
CACNA1E | QQL-E---EQ-KNAPMFQRMEPSS------>L<PQ-------EI-IA-N-------AKALPY- | 1920 |
CACNA1F | GLL-GN-DAA--------PSTSSA-L-QAG>L<RSL-Q-DLGPE-MRQA-------LTC---- | 1637 |
CACNA1G | PSC------------------SLA------>L<TD-------DSLP--------DDMHTLLLS | 2015 |
CACNA1H | SVH-SP-PAE-SCASLQIPLAVSS------>P<AR-------SGEPLHALSPRGTARSPSLSR | 2011 |
CACNA1I | ILL-GD-DLS-LEDPTACPPGRKD------>S<KG-------ELDP-----PEPMRVGDLGEC | 1905 |
CACNA1S | YY--GY--RP--------KKDIVQ-I-QAG>L<RTI-EEEAAPE-ICRT-------VSG---- | 1576 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1942S | c.5824C>T | Putative Benign | SIFT: Polyphen: |