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
1 M 18 0 18 0.001 0.727 View mutations
2 V 18 1 19 0.079 0.862 View mutations
3 D 9 10 19 0.502 0.464 View mutations
4 G 13 6 19 0.335 0.622 View mutations
5 V 19 0 19 0.002 0.879 View mutations
6 M 19 0 19 0.003 0.873 View mutations
7 I 19 0 19 0.000 0.863 View mutations
8 L 19 0 19 0.001 0.922 View mutations
9 P 19 0 19 0.003 0.903 View mutations
10 V 19 0 19 0.002 0.919 View mutations
11 L 19 0 19 0.010 0.921 View mutations
12 I 17 2 19 0.081 0.840 View mutations
13 M 19 0 19 0.001 0.940 View mutations
14 I 19 0 19 0.000 0.936 View mutations
15 A 19 0 19 0.000 0.939 View mutations
16 L 19 0 19 0.002 0.925 View mutations
17 P 19 0 19 0.001 0.963 View mutations
18 S 19 0 19 0.001 0.951 View mutations
19 P 19 0 19 0.040 0.966 View mutations
20 S 19 0 19 0.002 1.000 View mutations
21 M 19 0 19 0.004 0.969 View mutations
22 E 19 0 19 0.001 0.926 View mutations
23 D 17 2 19 0.094 0.843 View mutations
24 E 19 0 19 0.015 0.906 View mutations
25 K 19 0 19 0.015 0.912 View mutations