No paralogue variants have been mapped to residue 1772 for SCN5A.
SCN5A | CGSPAVGILFFTTYIIISFLIVVNMYIAII>L<ENFSVATEESTEPLSEDDFDMFYEIWEKFD | 1802 |
SCN1A | CGNPSVGIFFFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESAEPLSEDDFEMFYEVWEKFD | 1816 |
SCN2A | CGNPSVGIFFFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESAEPLSEDDFEMFYEVWEKFD | 1806 |
SCN3A | CGNPSVGIFFFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESAEPLSEDDFEMFYEVWEKFD | 1801 |
SCN4A | CGNPSIGICFFCSYIIISFLIVVNMYIAII>L<ENFNVATEESSEPLGEDDFEMFYETWEKFD | 1628 |
SCN7A | CGNPSVGIFYFVSYILISWLIIVNMYIVVV>M<EFLNIASKKKNKTLSEDDFRKFFQVWKRFD | 1526 |
SCN8A | CGNPSVGIFFFVSYIIISFLIVVNMYIAII>L<ENFSVATEESADPLSEDDFETFYEIWEKFD | 1796 |
SCN9A | CGNPSVGIFYFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESTEPLSEDDFEMFYEVWEKFD | 1779 |
SCN10A | CGSPAVGIIFFTTYIIISFLIMVNMYIAVI>L<ENFNVATEESTEPLSEDDFDMFYETWEKFD | 1752 |
SCN11A | CHLPGIATSYFVSYIIISFLIVVNMYIAVI>L<ENFNTATEESEDPLGEDDFDIFYEVWEKFD | 1634 |
CACNA1A | CGN-EFAYFYFVSFIFLCSFLMLNLFVAVI>M<DNFEYLTRDSSI-LGPHHLDEYVRVWAEYD | 1840 |
CACNA1B | CGS-DFAYFYFVSFIFLCSFLMLNLFVAVI>M<DNFEYLTRDSSI-LGPHHLDEFIRVWAEYD | 1738 |
CACNA1C | CGS-SFAVFYFISFYMLCAFLIINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKRIWAEYD | 1505 |
CACNA1D | CGS-NFAIVYFISFYMLCAFLIINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKRIWSEYD | 1513 |
CACNA1E | CGT-DLAYVYFVSFIFFCSFLMLNLFVAVI>M<DNFEYLTRDSSI-LGPHHLDEFVRVWAEYD | 1752 |
CACNA1F | CGS-NFAIAYFISFFMLCAFLIINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKRIWSEYD | 1470 |
CACNA1G | YNT-VISPIYFVSFVLTAQFVLVNVVIAVL>M<KHLEESNKEAKE---EAELEAELELEMKT- | 1877 |
CACNA1H | YLP-ALSPVYFVTFVLVAQFVLVNVVVAVL>M<KHLEESNKEARE---DAELDAEIELEMAQG | 1887 |
CACNA1I | SLQ-FVSPLYFVSFVLTAQFVLINVVVAVL>M<KHLDDSNKEAQE---DAEMDAELELEMAHG | 1757 |
CACNA1S | CGT-NFAYYYFISFYMLCAFLVINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKAIWAEYD | 1410 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1772V | c.5314C>G | Inherited Arrhythmia | LQTS | rs199473312 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. Circ Arrhythm Electrophysiol. 2010 3(1):10-7. 19996378 |