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

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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
26 P 19 0 19 0.007 0.888 View mutations
27 K 19 0 19 0.003 0.933 View mutations
28 V 19 0 19 0.010 0.926 View mutations
29 N 18 1 19 0.059 0.891 View mutations
30 P 18 1 19 0.048 0.883 View mutations
31 K 19 0 19 0.006 0.905 View mutations
32 L 18 1 19 0.052 0.842 View mutations
33 Y 18 1 19 0.056 0.724 View mutations
34 M 18 1 19 0.054 0.709 View mutations
35 C 0 19 19 0.993 0.294 View mutations
36 V 19 0 19 0.005 0.602 View mutations
37 C 19 0 19 0.035 0.631 View mutations
38 E 12 7 19 0.399 0.509 View mutations
39 G 6 13 19 0.630 0.396 View mutations
40 L 19 0 19 0.002 0.657 View mutations
41 S 18 1 19 0.068 0.662 View mutations
42 C 19 0 19 0.062 0.568 View mutations
43 G 19 0 19 0.000 0.698 View mutations
44 N 18 1 19 0.052 0.696 View mutations
45 E 18 1 19 0.058 0.651 View mutations
46 D 19 0 19 0.014 0.666 View mutations
47 H 18 1 19 0.060 0.605 View mutations
48 C 8 11 19 0.562 0.434 View mutations
49 E 18 1 19 0.080 0.628 View mutations
50 G 0 19 19 0.977 0.367 View mutations