Q04771 (ACVR1)

Overview
Predicted structure (AF):
AF-Q04771-F1-model_v4
Uniprot entry:
Q04771
Gene:
ACVR1
Protein length:
509 residues
Mutations found:
9670
Benign based on D2Deep prediction:
5151 out of 9670 mutations
Pathogenic based on D2Deep prediction:
4519 out of 9670 mutations
Scores that are greater than or equal to 0.5 are considered "Pathogenic", while scores that are less than 0.5 are considered "Benign".
Predicted structure
Mutation Scores
Long range effect of the mutations
Short range effect of the mutations

Positions

Download displayed results as CSV

Table results: 9670 mutations across 509 unique positions. There are 5151 benign and 4519 pathogenic mutations.

Position Original Benign Pathogenic Total D2Deep score mean Overall confidence mean Actions
251 L 1 18 19 0.947 0.780 View mutations
252 Y 0 19 19 1.000 0.787 View mutations
253 N 0 19 19 1.000 0.786 View mutations
254 T 1 18 19 0.940 0.714 View mutations
255 V 1 18 19 0.959 0.688 View mutations
256 M 2 17 19 0.899 0.691 View mutations
257 L 0 19 19 1.000 0.813 View mutations
258 R 0 19 19 0.981 0.760 View mutations
259 H 1 18 19 0.952 0.778 View mutations
260 E 11 8 19 0.448 0.465 View mutations
261 N 0 19 19 1.000 0.746 View mutations
262 I 0 19 19 1.000 0.873 View mutations
263 L 0 19 19 0.986 0.825 View mutations
264 G 2 17 19 0.893 0.677 View mutations
265 F 3 16 19 0.832 0.681 View mutations
266 I 9 10 19 0.520 0.512 View mutations
267 A 1 18 19 0.952 0.852 View mutations
268 S 0 19 19 0.986 0.959 View mutations
269 D 0 19 19 1.000 0.975 View mutations
270 M 0 19 19 1.000 0.915 View mutations
271 T 0 19 19 1.000 0.904 View mutations
272 S 2 17 19 0.874 0.833 View mutations
273 R 3 16 19 0.830 0.652 View mutations
274 H 1 18 19 0.948 0.717 View mutations
275 S 5 14 19 0.742 0.647 View mutations