No paralogue variants have been mapped to residue 672 for KCNH2.
KCNH2 | ICVMLIGSLMYASIFGNVSAIIQRLYSGTA>R<YHTQMLRVREFIRFHQIPNPLRQRLEEYFQ | 702 |
KCNH1 | VAIMMIGSLLYATIFGNVTTIFQQMYANTN>R<YHEMLNSVRDFLKLYQVPKGLSERVMDYIV | 541 |
KCNH3 | ICTMLIGALMHAVVFGNVTAIIQRMYARRF>L<YHSRTRDLRDYIRIHRIPKPLKQRMLEYFQ | 543 |
KCNH4 | ICTMLIGALMHAVVFGNVTAIIQRMYSRRS>L<YHSRMKDLKDFIRVHRLPRPLKQRMLEYFQ | 517 |
KCNH5 | VAMMMVGSLLYATIFGNVTTIFQQMYANTN>R<YHEMLNNVRDFLKLYQVPKGLSERVMDYIV | 510 |
KCNH6 | ICVMLIGSLMYASIFGNVSAIIQRLYSGTA>R<YHTQMLRVKEFIRFHQIPNPLRQRLEEYFQ | 554 |
KCNH7 | ICVMLIGSLMYASIFGNVSAIIQRLYSGTA>R<YHMQMLRVKEFIRFHQIPNPLRQRLEEYFQ | 705 |
KCNH8 | ICTMLIGALMHALVFGNVTAIIQRMYSRWS>L<YHTRTKDLKDFIRVHHLPQQLKQRMLEYFQ | 512 |
CNGA1 | VVDFLIGVLIFATIVGNIGSMISNMNAARA>E<FQARIDAIKQYMHFRNVSKDMEKRVIKWFD | 439 |
CNGA2 | IFDFLIGVLIFATIVGNVGSMISNMNATRA>E<FQAKIDAVKHYMQFRKVSKGMEAKVIRWFD | 414 |
CNGA3 | VVDFLVGVLIFATIVGNVGSMISNMNASRA>E<FQAKIDSIKQYMQFRKVTKDLETRVIRWFD | 442 |
CNGA4 | VGDFLLAVMGFATIMGSMSSVIYNMNTADA>A<FYPDHALVKKYMKLQHVNRKLERRVIDWYQ | 308 |
CNGB1 | LLNYFTGVFAFSVMIGQMRDVVGAATAGQT>Y<YRSCMDSTVKYMNFYKIPKSVQNRVKTWYE | 922 |
CNGB3 | LLNFFSGVFVFSSLIGQMRDVIGAATANQN>Y<FRACMDDTIAYMNNYSIPKLVQKRVRTWYE | 484 |
HCN1 | MLSMIVGATCYAMFVGHATALIQSLDSSRR>Q<YQEKYKQVEQYMSFHKLPADMRQKIHDYYE | 436 |
HCN2 | MLSMIVGATCYAMFIGHATALIQSLDSSRR>Q<YQEKYKQVEQYMSFHKLPADFRQKIHDYYE | 505 |
HCN3 | MLSMIVGATCYAMFIGHATALIQSLDSSRR>Q<YQEKYKQVEQYMSFHKLPADTRQRIHEYYE | 389 |
HCN4 | MLSMIVGATCYAMFIGHATALIQSLDSSRR>Q<YQEKYKQVEQYMSFHKLPPDTRQRIHDYYE | 556 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R672H | c.2015G>A | Putative Benign | SIFT: Polyphen: | ||
p.R672C | c.2014C>T | Putative Benign | SIFT: Polyphen: |