No paralogue variants have been mapped to residue 624 for KCNH2.
KCNH2 | --------LGGPSIKDKYVTALYFTFSSLT>S<VGFGNVSPNTNSEKIFSICVMLIGSLMYAS | 654 |
KCNH1 | -S--GK-WEGGPSKNSVYISSLYFTMTSLT>S<VGFGNIAPSTDIEKIFAVAIMMIGSLLYAT | 493 |
KCNH3 | ANGTGLELLGGPSLRSAYITSLYFALSSLT>S<VGFGNVSANTDTEKIFSICTMLIGALMHAV | 495 |
KCNH4 | -------SVGGPSRRSAYIAALYFTLSSLT>S<VGFGNVCANTDAEKIFSICTMLIGALMHAV | 469 |
KCNH5 | -A--GI-WEGGPSKDSLYVSSLYFTMTSLT>T<IGFGNIAPTTDVEKMFSVAMMMVGSLLYAT | 462 |
KCNH6 | -P------ASGPSVQDKYVTALYFTFSSLT>S<VGFGNVSPNTNSEKVFSICVMLIGSLMYAS | 506 |
KCNH7 | -S------SSGPSIKDKYVTALYFTFSSLT>S<VGFGNVSPNTNSEKIFSICVMLIGSLMYAS | 657 |
KCNH8 | -------TLGGPSIRSAYIAALYFTLSSLT>S<VGFGNVSANTDAEKIFSICTMLIGALMHAL | 464 |
CNGA1 | ---------EFGRLARKYVYSLYWSTLTLT>T<IG-ETPPPVRDSEYVFVVVDFLIGVLIFAT | 391 |
CNGA2 | ---------EYGYLAREYIYCLYWSTLTLT>T<IG-ETPPPVKDEEYLFVIFDFLIGVLIFAT | 366 |
CNGA3 | ---------EHGRLSRKYIYSLYWSTLTLT>T<IG-ETPPPVKDEEYLFVVVDFLVGVLIFAT | 394 |
CNGA4 | ---------GFERLRRQYLYSFYFSTLILT>T<VG-DTPPPAREEEYLFMVGDFLLAVMGFAT | 260 |
CNGB1 | ------------GVGNSYIRCYYFAVKTLI>T<IG-GLPDPKTLFEIVFQLLNYFTGVFAFSV | 874 |
CNGB3 | ------------GEGNEYLRCYYWAVRTLI>T<IG-GLPEPQTLFEIVFQLLNFFSGVFVFSS | 436 |
HCN1 | ---------VNDSWGKQYSYALFKAMSHML>C<IGYGAQAPVSMSDLWITMLSMIVGATCYAM | 388 |
HCN2 | ---------VNHSWSELYSFALFKAMSHML>C<IGYGRQAPESMTDIWLTMLSMIVGATCYAM | 457 |
HCN3 | ---------VNHSWGRQYSHALFKAMSHML>C<IGYGQQAPVGMPDVWLTMLSMIVGATCYAM | 341 |
HCN4 | ---------VNNSWGKQYSYALFKAMSHML>C<IGYGRQAPVGMSDVWLTMLSMIVGATCYAM | 508 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S624N | c.1871G>A | Putative Benign | SIFT: Polyphen: |