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
501 S 16 3 19 0.218 0.519 View mutations
502 L 6 13 19 0.678 0.410 View mutations
503 D 4 15 19 0.768 0.389 View mutations
504 K 2 17 19 0.837 0.365 View mutations
505 L 4 15 19 0.739 0.383 View mutations
506 K 10 9 19 0.539 0.455 View mutations
507 T 19 0 19 0.015 0.636 View mutations
508 D 1 18 19 0.955 0.358 View mutations
509 C 14 5 19 0.315 0.525 View mutations