No paralogue variants have been mapped to residue 679 for KCNH2.
KCNH2 | SLMYASIFGNVSAIIQRLYSGTARYHTQML>R<VREFIRFHQIPNPLRQRLEEYFQHAWSYTN | 709 |
KCNH1 | SLLYATIFGNVTTIFQQMYANTNRYHEMLN>S<VRDFLKLYQVPKGLSERVMDYIVSTWSMSR | 548 |
KCNH3 | ALMHAVVFGNVTAIIQRMYARRFLYHSRTR>D<LRDYIRIHRIPKPLKQRMLEYFQATWAVNN | 550 |
KCNH4 | ALMHAVVFGNVTAIIQRMYSRRSLYHSRMK>D<LKDFIRVHRLPRPLKQRMLEYFQTTWAVNS | 524 |
KCNH5 | SLLYATIFGNVTTIFQQMYANTNRYHEMLN>N<VRDFLKLYQVPKGLSERVMDYIVSTWSMSK | 517 |
KCNH6 | SLMYASIFGNVSAIIQRLYSGTARYHTQML>R<VKEFIRFHQIPNPLRQRLEEYFQHAWSYTN | 561 |
KCNH7 | SLMYASIFGNVSAIIQRLYSGTARYHMQML>R<VKEFIRFHQIPNPLRQRLEEYFQHAWTYTN | 712 |
KCNH8 | ALMHALVFGNVTAIIQRMYSRWSLYHTRTK>D<LKDFIRVHHLPQQLKQRMLEYFQTTWSVNN | 519 |
CNGA1 | VLIFATIVGNIGSMISNMNAARAEFQARID>A<IKQYMHFRNVSKDMEKRVIKWFDYLWTNKK | 446 |
CNGA2 | VLIFATIVGNVGSMISNMNATRAEFQAKID>A<VKHYMQFRKVSKGMEAKVIRWFDYLWTNKK | 421 |
CNGA3 | VLIFATIVGNVGSMISNMNASRAEFQAKID>S<IKQYMQFRKVTKDLETRVIRWFDYLWANKK | 449 |
CNGA4 | VMGFATIMGSMSSVIYNMNTADAAFYPDHA>L<VKKYMKLQHVNRKLERRVIDWYQHLQINKK | 315 |
CNGB1 | VFAFSVMIGQMRDVVGAATAGQTYYRSCMD>S<TVKYMNFYKIPKSVQNRVKTWYEYTWHSQG | 929 |
CNGB3 | VFVFSSLIGQMRDVIGAATANQNYFRACMD>D<TIAYMNNYSIPKLVQKRVRTWYEYTWDSQR | 491 |
HCN1 | ATCYAMFVGHATALIQSLDSSRRQYQEKYK>Q<VEQYMSFHKLPADMRQKIHDYYEHRYQG-K | 442 |
HCN2 | ATCYAMFIGHATALIQSLDSSRRQYQEKYK>Q<VEQYMSFHKLPADFRQKIHDYYEHRYQG-K | 511 |
HCN3 | ATCYAMFIGHATALIQSLDSSRRQYQEKYK>Q<VEQYMSFHKLPADTRQRIHEYYEHRYQG-K | 395 |
HCN4 | ATCYAMFIGHATALIQSLDSSRRQYQEKYK>Q<VEQYMSFHKLPPDTRQRIHDYYEHRYQG-K | 562 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R679W | c.2035C>T | Putative Benign | rs79624542 | SIFT: deleterious Polyphen: probably damaging | |
p.R679Q | c.2036G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging |