No paralogue variants have been mapped to residue 621 for KCNH2.
KCNH2 | -----------LGGPSIKDKYVTALYFTFS>S<LTSVGFGNVSPNTNSEKIFSICVMLIGSLM | 651 |
KCNH1 | ----S--GK-WEGGPSKNSVYISSLYFTMT>S<LTSVGFGNIAPSTDIEKIFAVAIMMIGSLL | 490 |
KCNH3 | SSEANGTGLELLGGPSLRSAYITSLYFALS>S<LTSVGFGNVSANTDTEKIFSICTMLIGALM | 492 |
KCNH4 | ----------SVGGPSRRSAYIAALYFTLS>S<LTSVGFGNVCANTDAEKIFSICTMLIGALM | 466 |
KCNH5 | ----A--GI-WEGGPSKDSLYVSSLYFTMT>S<LTTIGFGNIAPTTDVEKMFSVAMMMVGSLL | 459 |
KCNH6 | ----P------ASGPSVQDKYVTALYFTFS>S<LTSVGFGNVSPNTNSEKVFSICVMLIGSLM | 503 |
KCNH7 | ----S------SSGPSIKDKYVTALYFTFS>S<LTSVGFGNVSPNTNSEKIFSICVMLIGSLM | 654 |
KCNH8 | ----------TLGGPSIRSAYIAALYFTLS>S<LTSVGFGNVSANTDAEKIFSICTMLIGALM | 461 |
CNGA1 | ------------EFGRLARKYVYSLYWSTL>T<LTTIG-ETPPPVRDSEYVFVVVDFLIGVLI | 388 |
CNGA2 | ------------EYGYLAREYIYCLYWSTL>T<LTTIG-ETPPPVKDEEYLFVIFDFLIGVLI | 363 |
CNGA3 | ------------EHGRLSRKYIYSLYWSTL>T<LTTIG-ETPPPVKDEEYLFVVVDFLVGVLI | 391 |
CNGA4 | ------------GFERLRRQYLYSFYFSTL>I<LTTVG-DTPPPAREEEYLFMVGDFLLAVMG | 257 |
CNGB1 | ---------------GVGNSYIRCYYFAVK>T<LITIG-GLPDPKTLFEIVFQLLNYFTGVFA | 871 |
CNGB3 | ---------------GEGNEYLRCYYWAVR>T<LITIG-GLPEPQTLFEIVFQLLNFFSGVFV | 433 |
HCN1 | ------------VNDSWGKQYSYALFKAMS>H<MLCIGYGAQAPVSMSDLWITMLSMIVGATC | 385 |
HCN2 | ------------VNHSWSELYSFALFKAMS>H<MLCIGYGRQAPESMTDIWLTMLSMIVGATC | 454 |
HCN3 | ------------VNHSWGRQYSHALFKAMS>H<MLCIGYGQQAPVGMPDVWLTMLSMIVGATC | 338 |
HCN4 | ------------VNNSWGKQYSYALFKAMS>H<MLCIGYGRQAPVGMSDVWLTMLSMIVGATC | 505 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S621N | c.1862G>A | Inherited Arrhythmia | LQTS | rs199472948 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472 | ||
Inherited Arrhythmia | LQTS | Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem. 2001 47(8):1390-5. 11468227 | |||
Inherited Arrhythmia | LQTS | Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat. 2001 18(5):451-7. 11668638 | |||
Other Cardiac Phenotype | Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol. 2004 43(5):826-30. 14998624 | ||||
Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
p.S621R | c.1863C>G | Inherited Arrhythmia | LQTS | rs199472949 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 |