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
51 Q 12 7 19 0.368 0.490 View mutations
52 Q 13 6 19 0.420 0.503 View mutations
53 C 0 19 19 0.965 0.397 View mutations
54 F 15 4 19 0.274 0.462 View mutations
55 S 19 0 19 0.017 0.476 View mutations
56 S 17 2 19 0.120 0.515 View mutations
57 L 18 1 19 0.060 0.571 View mutations
58 S 19 0 19 0.007 0.631 View mutations
59 I 19 0 19 0.001 0.664 View mutations
60 N 19 0 19 0.004 0.708 View mutations
61 D 19 0 19 0.009 0.700 View mutations
62 G 16 3 19 0.158 0.549 View mutations
63 F 19 0 19 0.007 0.707 View mutations
64 H 19 0 19 0.001 0.720 View mutations
65 V 18 1 19 0.053 0.681 View mutations
66 Y 18 1 19 0.039 0.621 View mutations
67 Q 18 1 19 0.090 0.531 View mutations
68 K 10 9 19 0.453 0.429 View mutations
69 G 19 0 19 0.000 0.352 View mutations
70 C 4 15 19 0.702 0.451 View mutations
71 F 18 1 19 0.068 0.504 View mutations
72 Q 18 1 19 0.043 0.641 View mutations
73 V 18 1 19 0.073 0.638 View mutations
74 Y 18 1 19 0.071 0.615 View mutations
75 E 16 3 19 0.155 0.557 View mutations