No paralogue variants have been mapped to residue 1944 for SCN5A.
SCN5A | A-SFLFRQ---------QAGSGLSEEDAPE>R<EGL-IAYVM--------------------- | 1952 |
SCN1A | A-SFTYNK---------NKIKG--GANLLI>K<EDM-IIDRI--------------------- | 1964 |
SCN2A | V-SSIYKK---------DKGKE--CDGTPI>K<EDT-LIDKL--------------------- | 1954 |
SCN3A | I-SSNYNK---------EAIKG--RIDLPI>K<QDM-IIDKL--------------------- | 1949 |
SCN4A | A-SYMYRH---------SHDGS--GDDAPE>K<EGL-LANTM-SKMY---------------- | 1780 |
SCN7A | T-SDIHMI---------DGDR----DVHAT>K<EGA-YFDKA--------------------- | 1672 |
SCN8A | ------------------------------>K<KTT-SNKLE--------------------- | 1926 |
SCN9A | I-SSIYIK---------DGDRD---DDLLN>K<KDM-AFDNV--------------------- | 1926 |
SCN10A | S-NTPCVP---------RAEEE---AASLP>D<EGF-VAFTA--------------------- | 1899 |
SCN11A | Q-G-D--Q---------------------->-<NDL-----E--------------------- | 1763 |
CACNA1A | R-E---EQDRTPLMFQRMEPPS------PT>Q<-------EG-GP-G-------QNALPS-TQ | 2011 |
CACNA1B | PGG---LS----QMGPVSLFHP------LK>A<TLE-QT-QPAVLRGARVFLR-QKS--S-TS | 1920 |
CACNA1C | V-GK--PS--------QRNALS-L-QAGLR>T<L-H-DIGPE-IRRA-------ISG----DL | 1673 |
CACNA1D | V-GK-YPA--------KNTTIA-L-QAGLR>T<L-H-DIGPE-IRRA-------ISC----DL | 1682 |
CACNA1E | L-E---EQ-KNAPMFQRMEPSS------LP>Q<-------EI-IA-N-------AKALPY-LQ | 1922 |
CACNA1F | L-GN-DAA--------PSTSSA-L-QAGLR>S<L-Q-DLGPE-MRQA-------LTC----DT | 1639 |
CACNA1G | C------------------SLA------LT>D<-------DSLP--------DDMHTLLLSAL | 2017 |
CACNA1H | H-SP-PAE-SCASLQIPLAVSS------PA>R<-------SGEPLHALSPRGTARSPSLSRLL | 2013 |
CACNA1I | L-GD-DLS-LEDPTACPPGRKD------SK>G<-------ELDP-----PEPMRVGDLGECFF | 1907 |
CACNA1S | --GY--RP--------KKDIVQ-I-QAGLR>T<I-EEEAAPE-ICRT-------VSG----DL | 1578 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1944Q | c.5831G>A | Putative Benign | SIFT: Polyphen: |