No paralogue variants have been mapped to residue 1667 for SCN5A.
SCN5A | IRGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYSIFGMANFAYVKW-----EAG----- | 1687 |
SCN1A | IKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKR-----EVG----- | 1700 |
SCN2A | IKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKR-----EVG----- | 1690 |
SCN3A | IKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKK-----EAG----- | 1685 |
SCN4A | IRGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYSIFGMSNFAYVKK-----ESG----- | 1512 |
SCN7A | GKGPKVFHNLMLPLMLSLPALLNIILLIFL>V<MFIYAVFGMYNFAYVKK-----EAG----- | 1410 |
SCN8A | IKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIFSIFGMSNFAYVKH-----EAG----- | 1681 |
SCN9A | VKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKK-----EDG----- | 1663 |
SCN10A | IRAAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYSIFGMSSFPHVRW-----EAG----- | 1637 |
SCN11A | VRAARGIRTLLFALMMSLPSLFNIGLLLFL>I<MFIYAILGMNWFSKVNP-----ESG----- | 1527 |
CACNA1A | LRQGYTIRILLWTFVQSFKALPYVCLLIAM>L<FFIYAIIGMQVFGNIGIDVEDEDSDEDEFQ | 1732 |
CACNA1B | LRQGYTIRILLWTFVQSFKALPYVCLLIAM>L<FFIYAIIGMQVFGNIALDD---DTS----- | 1632 |
CACNA1C | LSRGEGIRTLLWTFIKSFQALPYVALLIVM>L<FFIYAVIGMQVFGKIALND---TTE----- | 1392 |
CACNA1D | LSRGEGIRTLLWTFIKSFQALPYVALLIAM>L<FFIYAVIGMQMFGKVAMRD---NNQ----- | 1402 |
CACNA1E | LRQGYTIRILLWTFVQSFKALPYVCLLIAM>L<FFIYAIIGMQVFGNIKLDE---ESH----- | 1639 |
CACNA1F | LSKGEGIRTLLWTFIKSFQALPYVALLIAM>I<FFIYAVIGMQMFGKVALQD---GTQ----- | 1359 |
CACNA1G | LKMAVGMRALLDTVMQALPQVGNLGLLFML>L<FFIFAALGVELFGDLECDET---HP--CEG | 1778 |
CACNA1H | LKMATGMRALLDTVVQALPQVGNLGLLFML>L<FFIYAALGVELFGRLECSED---NP--CEG | 1784 |
CACNA1I | LKMATGMRALLDTVVQALPQVGNLGLLFML>L<FFIYAALGVELFGKLVCNDE---NP--CEG | 1654 |
CACNA1S | LSRAEGVRTLLWTFIKSFQALPYVALLIVM>L<FFIYAVIGMQMFGKIALVD---GTQ----- | 1299 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1667I | c.4999G>A | Inherited Arrhythmia | LQTS,BrS | rs199473293 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Effect of the antimalarial drug halofantrine in the long QT syndrome due to a mutation of the cardiac sodium channel gene SCN5A. Am J Cardiol. 2001 87(7):909-11. 11274952 | ||
Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | |||
p.V1667A | c.5000T>C | Putative Benign | rs199539456 | SIFT: deleterious Polyphen: probably damaging | |
p.Val1667Leu | c.4999G>C | Unknown | SIFT: Polyphen: |