No paralogue variants have been mapped to residue 656 for KCNH2.
KCNH2 | GFGNVSPNTNSEKIFSICVMLIGSLMYASI>F<GNVSAIIQRLYSGTARYHTQMLRVREFIRF | 686 |
KCNH1 | GFGNIAPSTDIEKIFAVAIMMIGSLLYATI>F<GNVTTIFQQMYANTNRYHEMLNSVRDFLKL | 525 |
KCNH3 | GFGNVSANTDTEKIFSICTMLIGALMHAVV>F<GNVTAIIQRMYARRFLYHSRTRDLRDYIRI | 527 |
KCNH4 | GFGNVCANTDAEKIFSICTMLIGALMHAVV>F<GNVTAIIQRMYSRRSLYHSRMKDLKDFIRV | 501 |
KCNH5 | GFGNIAPTTDVEKMFSVAMMMVGSLLYATI>F<GNVTTIFQQMYANTNRYHEMLNNVRDFLKL | 494 |
KCNH6 | GFGNVSPNTNSEKVFSICVMLIGSLMYASI>F<GNVSAIIQRLYSGTARYHTQMLRVKEFIRF | 538 |
KCNH7 | GFGNVSPNTNSEKIFSICVMLIGSLMYASI>F<GNVSAIIQRLYSGTARYHMQMLRVKEFIRF | 689 |
KCNH8 | GFGNVSANTDAEKIFSICTMLIGALMHALV>F<GNVTAIIQRMYSRWSLYHTRTKDLKDFIRV | 496 |
CNGA1 | G-ETPPPVRDSEYVFVVVDFLIGVLIFATI>V<GNIGSMISNMNAARAEFQARIDAIKQYMHF | 423 |
CNGA2 | G-ETPPPVKDEEYLFVIFDFLIGVLIFATI>V<GNVGSMISNMNATRAEFQAKIDAVKHYMQF | 398 |
CNGA3 | G-ETPPPVKDEEYLFVVVDFLVGVLIFATI>V<GNVGSMISNMNASRAEFQAKIDSIKQYMQF | 426 |
CNGA4 | G-DTPPPAREEEYLFMVGDFLLAVMGFATI>M<GSMSSVIYNMNTADAAFYPDHALVKKYMKL | 292 |
CNGB1 | G-GLPDPKTLFEIVFQLLNYFTGVFAFSVM>I<GQMRDVVGAATAGQTYYRSCMDSTVKYMNF | 906 |
CNGB3 | G-GLPEPQTLFEIVFQLLNFFSGVFVFSSL>I<GQMRDVIGAATANQNYFRACMDDTIAYMNN | 468 |
HCN1 | GYGAQAPVSMSDLWITMLSMIVGATCYAMF>V<GHATALIQSLDSSRRQYQEKYKQVEQYMSF | 420 |
HCN2 | GYGRQAPESMTDIWLTMLSMIVGATCYAMF>I<GHATALIQSLDSSRRQYQEKYKQVEQYMSF | 489 |
HCN3 | GYGQQAPVGMPDVWLTMLSMIVGATCYAMF>I<GHATALIQSLDSSRRQYQEKYKQVEQYMSF | 373 |
HCN4 | GYGRQAPVGMSDVWLTMLSMIVGATCYAMF>I<GHATALIQSLDSSRRQYQEKYKQVEQYMSF | 540 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F656C | c.1967T>G | Inherited Arrhythmia | LQTS | rs199472977 | 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 |