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