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
451 D 12 7 19 0.350 0.435 View mutations
452 Q 0 19 19 0.967 0.715 View mutations
453 Q 16 3 19 0.153 0.423 View mutations
454 R 19 0 19 0.000 0.294 View mutations
455 P 1 18 19 0.891 0.719 View mutations
456 N 10 9 19 0.452 0.499 View mutations
457 I 3 16 19 0.858 0.600 View mutations
458 P 2 17 19 0.892 0.624 View mutations
459 N 17 2 19 0.098 0.434 View mutations
460 R 19 0 19 0.028 0.434 View mutations
461 W 19 0 19 0.008 0.396 View mutations
462 F 19 0 19 0.021 0.370 View mutations
463 S 19 0 19 0.003 0.450 View mutations
464 D 19 0 19 0.000 0.363 View mutations
465 P 14 5 19 0.302 0.407 View mutations
466 T 19 0 19 0.029 0.467 View mutations
467 L 5 14 19 0.735 0.503 View mutations
468 T 19 0 19 0.000 0.427 View mutations
469 S 6 13 19 0.651 0.425 View mutations
470 L 5 14 19 0.738 0.446 View mutations
471 A 2 17 19 0.922 0.470 View mutations
472 K 19 0 19 0.000 0.387 View mutations
473 L 19 0 19 0.000 0.475 View mutations
474 M 11 8 19 0.406 0.487 View mutations
475 K 9 10 19 0.471 0.504 View mutations