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
376 V 5 14 19 0.759 0.688 View mutations
377 G 0 19 19 1.000 0.899 View mutations
378 T 0 19 19 1.000 0.953 View mutations
379 K 0 19 19 0.995 0.940 View mutations
380 R 0 19 19 1.000 1.000 View mutations
381 Y 0 19 19 1.000 0.961 View mutations
382 M 0 19 19 1.000 0.902 View mutations
383 A 0 19 19 0.977 0.898 View mutations
384 P 7 12 19 0.636 0.605 View mutations
385 E 0 19 19 1.000 0.841 View mutations
386 V 1 18 19 0.939 0.733 View mutations
387 L 0 19 19 1.000 0.818 View mutations
388 D 6 13 19 0.671 0.554 View mutations
389 E 1 18 19 0.946 0.633 View mutations
390 T 15 4 19 0.264 0.481 View mutations
391 I 5 14 19 0.704 0.552 View mutations
392 Q 19 0 19 0.078 0.497 View mutations
393 V 12 7 19 0.453 0.492 View mutations
394 D 16 3 19 0.174 0.464 View mutations
395 C 19 0 19 0.000 0.350 View mutations
396 F 14 5 19 0.344 0.404 View mutations
397 D 15 4 19 0.213 0.377 View mutations
398 S 2 17 19 0.893 0.558 View mutations
399 Y 17 2 19 0.113 0.451 View mutations
400 K 1 18 19 0.938 0.593 View mutations