Structural domains of mutation | Mutation Code | Contacted Domains | Diseases Related |
Piezo Repeat A | hR1955C | Beam | CAP |
hA2020T | Piezo Repeat A | DHS | |
hA2020V | Anchor | DHS | |
Piezo Repeat A | |||
hG2029R | Piezo Repeat A | GLD | |
Inner Helix | hR2482H | Inner Helix | GLD |
Anchor | |||
CTD-IH Linkage | |||
hR2456C | None | GLD | |
hF2458L | Inner Helix | GLD | |
Anchor | hA2003D | Piezo Repeat A | DHS |
hT2127M | Anchor | DHS | |
CTD | |||
CTD | hR2488Q | CTD | DHS |
Anchor | |||
“Cap” | hM2225R | “Cap” | DHS |
Beam | hR1358P | Beam | DHS |
Piezo Repeat B | hV1712M | Piezo Repeat A | CAP |
Piezo Repeat B | |||
Outer Helix | hV2171F | Outer Helix | GLD |