Isoform 1 (ID: 79bb0a85-d537-4be0-bff8-d0fdb06b5211) | |||||
---|---|---|---|---|---|
Substitution | Mutpred score (>0.50 is considered pathogenic) | Molecular mechanism with p-value <= 0.05 | Probability | P-value | prediction |
H117P | 0.823 | Altered Metal binding | 0.27 | 0.02 | confident hypotheses |
Altered Transmembrane protein | 0.26 | 1.0e-03 | very confident hypotheses | ||
Altered Ordered interface | 0.25 | 0.03 | confident hypotheses | ||
H117L | 0.665 | Altered Transmembrane protein | 0.28 | 4.8e-04 | actionable hypotheses |
Loss of Strand | 0.28 | 9.6e-03 | actionable hypotheses | ||
Altered Metal binding | 0.27 | 0.02 | actionable hypotheses | ||
Altered Ordered interface | 0.25 | 0.02 | actionable hypotheses | ||
L290R | 0.644 | Altered Transmembrane protein | 0.13 | 0.02 | actionable hypotheses |
P234T | 0.767 | Altered Ordered interface | 0.32 | 1.8e-03 | very confident hypotheses |
Altered Transmembrane protein | 0.25 | 1.3e-03 | very confident hypotheses | ||
R30S | 0.792 | Altered Ordered interface | 0.29 | 5.0e-03 | very confident hypotheses |
Loss of Proteolytic cleavage at R30 | 0.21 | 1.2e-03 | very confident hypotheses | ||
Altered Stability | 0.20 | 0.01 | confident hypotheses | ||
Altered Metal binding | 0.16 | 3.5e-03 | very confident hypotheses | ||
T158P | 0.717 | Altered Ordered interface | 0.32 | 3.6e-03 | actionable hypotheses |
Gain of Relative solvent accessibility | 0.29 | 0.01 | actionable hypotheses | ||
Altered Disordered interface | 0.28 | 0.03 | actionable hypotheses | ||
Loss of Allosteric site at W157 | 0.28 | 7.4e-03 | actionable hypotheses | ||
Altered Metal binding | 0.27 | 4.4e-03 | actionable hypotheses | ||
Altered Transmembrane protein | 0.27 | 6.6e-04 | actionable hypotheses | ||
Loss of Helix | 0.27 | 0.05 | actionable hypotheses | ||
Altered Coiled coil | 0.10 | 0.04 | actionable hypotheses | ||
Y142C | 0.681 | Altered Metal binding | 0.74 | 1.1e-03 | actionable hypotheses |
Altered Disordered interface | 0.61 | 1.7e-04 | actionable hypotheses | ||
Altered Ordered interface | 0.50 | 1.7e-04 | actionable hypotheses | ||
Altered Transmembrane protein | 0.29 | 2.1e-04 | actionable hypotheses | ||
Gain of Relative solvent accessibility | 0.27 | 0.02 | actionable hypotheses | ||
Loss of Acetylation at K145 | 0.20 | 0.04 | actionable hypotheses | ||
Loss of Methylation at K145 | 0.17 | 0.01 | actionable hypotheses | ||
Loss of Ubiquitylation at K145 | 0.16 | 0.04 | actionable hypotheses | ||
Gain of Disulfide linkage at Y142 | 0.09 | 0.05 | actionable hypotheses | ||
Loss of Sulfation at Y147 | 0.09 | 3.5e-03 | actionable hypotheses | ||
I237F | 0.658 | Altered Disordered interface | 0.33 | 0.01 | actionable hypotheses |
Altered Ordered interface | 0.28 | 0.04 | actionable hypotheses | ||
Altered Transmembrane protein | 0.26 | 1.1e-03 | actionable hypotheses | ||
Loss of Strand | 0.26 | 0.04 | actionable hypotheses | ||
Loss of Pyrrolidone carboxylic acid at Q242 | 0.06 | 0.02 | actionable hypotheses | ||
Q266L | 0.444 | Altered Ordered interface | 0.28 | 0.03 | - |
Gain of Relative solvent accessibility | 0.26 | 0.03 | |||
Loss of Methylation at K267 | 0.23 | 3.8e-03 | |||
Gain of Acetylation at K267 | 0.22 | 0.02 | |||
Loss of Pyrrolidone carboxylic acid at Q266 | 0.21 | 1.8e-03 | |||
Altered Metal binding | 0.20 | 0.03 | |||
Gain of Catalytic site at D262 | 0.16 | 0.02 | |||
Altered Transmembrane protein | 0.15 | 0.01 | |||
Gain of Proteolytic cleavage at D262 | 0.14 | 0.02 | |||
D53Y | 0.746 | Altered Ordered interface | 0.39 | 1.1e-03 | actionable hypotheses |
Altered Disordered interface =) | 0.38 | 6.6e-03 | actionable hypotheses | ||
Altered Metal binding | 0.37 | 1.7e-03 | actionable hypotheses actionable | ||
Altered Transmembrane protein | 0.19 | 6.6e-03 | hypotheses | ||
Loss of Proteolytic cleavage at D53 | 0.12 | 0.03 | actionable hypotheses | ||
Gain of Pyrrolidone carboxylic acid at Q56 | 0.09 | 0.01 | actionable hypotheses | ||
Gain of Sulfation at D53 | 0.07 | 4.4e-03 | actionable hypotheses | ||
W298R | 0.822 | Altered Ordered interface | 0.36 | 2.1e-03 | very confident hypotheses |
Altered Transmembrane protein | 0.12 | 0.03 | confident hypotheses | ||
C227Y | 0.87 | Altered Disordered interface | 0.42 | 3.2e-03 | very confident hypotheses |
Altered Ordered interface | 0.39 | 4.0e-04 | very confident hypotheses | ||
Altered Metal binding | 0.34 | 9.6e-03 | very confident hypotheses | ||
Altered Transmembrane protein | 0.31 | 1.2e-04 | very confident hypotheses | ||
Loss of Helix | 0.28 | 0.03 | confident hypotheses | ||
C227F | 0.888 | Altered Metal binding | 0.37 | 7.8e-03 | very confident hypotheses |
Altered Disordered interface | 0.34 | 0.01 | very confident hypotheses | ||
Altered Ordered interface | 0.28 | 4.3e-03 | very confident hypotheses | ||
Loss of Helix | 0.27 | 0.04 | confident hypotheses | ||
Altered Transmembrane protein | 0.26 | 9.6e-04 | very confident hypotheses | ||
L102P | 0.735 | Altered Disordered interface | 0.36 | 7.6e-03 | actionable hypotheses |
Gain of Intrinsic disorder | 0.34 | 0.02 | actionable hypotheses | ||
Altered Transmembrane protein | 0.31 | 1.1e-04 | actionable hypotheses | ||
Loss of Helix | 0.31 | 4.8e-03 | actionable hypotheses | ||
Altered DNA binding | 0.25 | 8.9e-03 | actionable hypotheses | ||
Altered Stability | 0.21 | 0.01 | actionable hypotheses | ||
Loss of Proteolytic cleavage at R99 | 0.13 | 0.02 | actionable hypotheses | ||
Y142H | 0.667 | Altered Metal binding | 0.78 | 8.2e-04 | actionable hypotheses |
Altered Ordered interface | 0.44 | 5.4e-04 | actionable hypotheses | ||
Altered Disordered interface | 0.35 | 8.9e-03 | actionable hypotheses | ||
Altered Transmembrane protein | 0.31 | 1.1e-04 | actionable hypotheses | ||
Gain of Relative solvent accessibility | 0.25 | 0.03 | actionable hypotheses | ||
Gain of Acetylation at K145 | 0.20 | 0.04 | actionable hypotheses | ||
Loss of Methylation at K145 | 0.17 | 0.01 | actionable hypotheses | ||
Altered Stability | 0.17 | 0.02 | actionable hypotheses | ||
Loss of Ubiquitylation at K145 ( | 0.15 | 0.05 | actionable hypotheses | ||
Altered Coiled coil | 0.10 | 0.04 | actionable hypotheses | ||
Loss of Sulfation at Y147 | 0.09 | 3.5e-03 | actionable hypotheses | ||
C188S | 0.795 | Altered Disordered interface | 0.29 | 0.03 | confident hypotheses |
Altered Ordered interface | 0.24 | 0.03 | confident hypotheses | ||
Altered DNA binding | 0.17 | 0.03 | confident hypotheses | ||
Altered Transmembrane protein | 0.09 | 0.05 | confident hypotheses | ||
P259H | 0.607 | Altered Metal binding | 0.47 | 5.9e-03 | actionable hypotheses |
Altered Ordered interface | 0.28 | 0.04 | actionable hypotheses | ||
Loss of Loop | 0.27 | 0.02 | actionable hypotheses | ||
Altered Transmembrane protein | 0.20 | 5.0e-03 | actionable hypotheses | ||
Gain of Catalytic site at D262 | 0.13 | 0.03 | actionable hypotheses | ||
Loss of Proteolytic cleavage at D262 | 0.13 | 0.03 | actionable hypotheses | ||
W157R | 0.936 | Altered Ordered interface | 0.37 | 1.8e-03 | very confident hypotheses |
Altered Transmembrane protein | 0.36 | 1.5e-05 | very confident hypotheses | ||
Gain of Relative solvent accessibility | 0.33 | 3.3e-03 | very confident hypotheses | ||
Altered Disordered interface | 0.30 | 0.02 | confident hypotheses | ||
Loss of Allosteric site at W157 | 0.30 | 3.7e-03 | very confident hypotheses | ||
Altered Metal binding | 0.28 | 3.8e-03 | very confident hypotheses | ||
Altered Coiled coil | 0.27 | 0.01 | confident hypotheses | ||
A229D | 0.843 | Altered Transmembrane protein | 0.34 | 2.4e-05 | very confident hypotheses |
Altered Metal binding | 0.29 | 0.02 | confident hypotheses | ||
Gain of Relative solvent accessibility | 0.28 | 0.02 | confident hypotheses | ||
Altered Ordered interface | 0.27 | 9.8e-03 | very confident hypotheses | ||
Q96P | 0.683 | Loss of Helix | 0.30 | 9.0e-03 | actionable hypotheses |
Altered Transmembrane protein | 0.29 | 3.0e-04 | actionable hypotheses | ||
Altered DNA binding | 0.25 | 6.7e-03 | actionable hypotheses | ||
Gain of Ubiquitylation at K92 | 0.15 | 0.04 | actionable hypotheses | ||
Gain of Proteolytic cleavage at R99 | 0.13 | 0.02 | actionable hypotheses | ||
Loss of Pyrrolidone carboxylic acid at Q96 | 0.10 | 0.01 | actionable hypotheses | ||
L294R | 0.527 | Altered Ordered interface | 0.27 | 8.6e-03 | actionable hypotheses |
D143N | 0.649 | Altered Metal binding | 0.38 | 1.5e-03 | actionable hypotheses |
Altered Transmembrane protein | 0.28 | 3.8e-04 | actionable hypotheses | ||
Altered Ordered interface | 0.28 | 0.04 | actionable hypotheses | ||
Altered Disordered interface | 0.28 | 0.03 | actionable hypotheses | ||
Gain of Relative solvent accessibility | 0.26 | 0.03 | actionable hypotheses | ||
Loss of Acetylation at K145 | 0.19 | 0.05 | actionable hypotheses | ||
Loss of Methylation at K145 | 0.16 | 0.01 | actionable hypotheses | ||
Loss of Ubiquitylation at K145 | 0.15 | 0.04 | actionable hypotheses | ||
Loss of Sulfation at Y147 | 0.09 | 3.4e-03 | actionable hypotheses | ||
D143H | 0.738 | Altered Metal binding | 0.43 | 7.0e-03 | actionable hypotheses |
Altered Transmembrane protein | 0.32 | 7.8e-05 | actionable hypotheses | ||
Altered Disordered interface | 0.29 | 0.03 | actionable hypotheses | ||
Altered Ordered interface | 0.27 | 7.0e-03 | actionable hypotheses | ||
Loss of Relative solvent accessibility | 0.26 | 0.03 | actionable hypotheses | ||
Loss of Acetylation at K145 | 0.19 | 0.05 | actionable hypotheses | ||
Loss of Methylation at K145 | 0.17 | 0.01 | actionable hypotheses | ||
Loss of Ubiquitylation at K145 | 0.16 | 0.03 | actionable hypotheses | ||
Loss of Sulfation at Y147 | 0.09 | 3.3e-03 | actionable hypotheses | ||
R205S | 0.617 | Gain of Intrinsic disorder | 0.34 | 0.02 | actionable hypotheses |
Altered Ordered interface | 0.29 | 0.03 | actionable hypotheses | ||
Loss of Helix | 0.27 | 0.05 | actionable hypotheses | ||
Y51C | 0.715 | Altered Disordered interface | 0.60 | 1.9e-04 | actionable hypotheses |
Altered Metal binding | 0.53 | 4.1e-03 | actionable hypotheses | ||
Altered Ordered interface | 0.30 | 4.6e-03 | actionable hypotheses | ||
Loss of Strand | 0.27 | 0.02 | actionable hypotheses | ||
Altered Transmembrane protein | 0.20 | 5.0e-03 | actionable hypotheses | ||
Loss of Proteolytic cleavage at D53 | 0.12 | 0.03 | actionable hypotheses | ||
Altered Stability | 0.12 | 0.03 | actionable hypotheses | ||
Gain of Pyrrolidone carboxylic acid at Q56 | 0.08 | 0.02 | actionable hypotheses | ||
Loss of Sulfation at Y51 | 0.03 | 0.02 | actionable hypotheses | ||
L196P | 0.884 | Altered Disordered interface | 0.34 | 0.01 | confident hypotheses |
Altered Ordered interface | 0.27 | 9.0e-03 | very confident hypotheses | ||
Altered DNA binding | 0.16 | 0.04 | confident hypotheses | ||
Altered Stability | 0.14 | 0.02 | confident hypotheses | ||
D54V | 0.718 | Altered Metal binding | 0.55 | 3.1e-04 | actionable hypotheses |
Altered Disordered interface | 0.40 | 4.2e-03 | actionable hypotheses | ||
Altered Ordered interface | 0.25 | 0.02 | actionable hypotheses | ||
Altered Transmembrane protein | 0.14 | 0.02 | actionable hypotheses | ||
Loss of Proteolytic cleavage at D53 | 0.12 | 0.03 | actionable hypotheses | ||
Gain of Pyrrolidone carboxylic acid at Q56 | 0.09 | 0.01 | actionable hypotheses | ||
Loss of Sulfation at Y51 | 0.03 | 0.02 | actionable hypotheses | ||
P234L | 0.809 | Altered Ordered interface | 0.33 | 1.5e-03 | very confident hypotheses |
Altered Disordered interface | 0.30 | 0.03 | confident hypotheses | ||
Altered Transmembrane protein | 0.29 | 2.0e-04 | very confident hypotheses | ||
Loss of Strand | 0.28 | 0.01 | confident hypotheses | ||
P39L | 0.659 | Altered Disordered interface | 0.27 | 0.04 | actionable hypotheses |
Loss of B-factor | 0.26 | 0.04 | actionable hypotheses | ||
Altered Transmembrane protein | 0.24 | 1.6e-03 | actionable hypotheses | ||
Altered DNA binding | 0.23 | 9.6e-03 | actionable hypotheses | ||
Gain of Proteolytic cleavage at R38 | 0.14 | 0.02 | actionable hypotheses | ||
M29K | 0.720 | Altered Ordered interface | 0.26 | 0.02 | actionable hypotheses |
Loss of Proteolytic cleavage at R30 | 0.20 | 2.6e-03 | actionable hypotheses | ||
Altered Stability | 0.13 | 0.03 | actionable hypotheses | ||
Altered Transmembrane protein | 0.12 | 0.03 | actionable hypotheses | ||
Altered Metal binding | 0.11 | 7.9e-03 | actionable hypotheses | ||
D153G | 0.853 | Altered Metal binding | 0.45 | 1.6e-04 | very confident hypotheses |
Altered Disordered interface | 0.35 | 9.1e-03 | very confident hypotheses | ||
Loss of Relative solvent accessibility | 0.30 | 8.2e-03 | very confident hypotheses | ||
Gain of Strand | 0.30 | 3.1e-03 | very confident hypotheses | ||
Altered Transmembrane protein | 0.28 | 4.6e-04 | very confident hypotheses | ||
Altered Ordered interface | 0.26 | 0.01 | confident hypotheses | ||
Gain of Allosteric site at W157 | 0.26 | 7.0e-03 | very confident hypotheses | ||
Altered Stability | 0.19 | 0.01 | confident hypotheses | ||
Altered Coiled coil | 0.10 | 0.04 | confident hypotheses | ||
D130H | 0.724 | Altered Transmembrane protein | 0.30 | 1.9e-04 | actionable hypotheses |
Altered Disordered interface | 0.28 | 0.03 | actionable hypotheses | ||
Altered Metal binding | 0.25 | 0.03 | actionable hypotheses | ||
Loss of Relative solvent accessibility | 0.25 | 0.04 | actionable hypotheses | ||
Altered Ordered interface | 0.24 | 0.04 | actionable hypotheses | ||
Gain of Disulfide linkage at C125 | 0.10 | 0.05 | actionable hypotheses | ||
Gain of Catalytic site at D126 | 0.08 | 0.05 | actionable hypotheses | ||
D244G | 0.705 | Altered Ordered interface | 0.30 | 0.02 | actionable hypotheses |
Altered Disordered interface | 0.28 | 0.04 | actionable hypotheses | ||
Gain of Strand | 0.27 | 0.02 | actionable hypotheses | ||
Altered Transmembrane protein | 0.26 | 8.2e-04 | actionable hypotheses | ||
Altered Metal binding | 0.18 | 0.03 | actionable hypotheses | ||
Gain of Pyrrolidone carboxylic acid at Q248 | 0.15 | 4.6e-03 | actionable hypotheses | ||
Loss of Proteolytic cleavage at R243 | 0.12 | 0.03 | actionable hypotheses | ||
Loss of Catalytic site at R243 | 0.09 | 0.04 | actionable hypotheses | ||
L105Q | 0.507 | Altered Disordered interface | 0.32 | 0.01 | actionable hypotheses |
Gain of Intrinsic disorder | 0.30 | 0.05 | actionable hypotheses | ||
Altered Transmembrane protein | 0.29 | 2.1e-04 | actionable hypotheses | ||
Altered Ordered interface | 0.26 | 0.01 | actionable hypotheses | ||
Altered DNA binding | 0.16 | 0.04 | actionable hypotheses | ||
Altered Stability | 0.15 | 0.02 | actionable hypotheses | ||
Loss of N-linked glycosylation at N110 | 0.05 | 0.02 | actionable hypotheses | ||
L105P | 0.702 | Altered Disordered interface | 0.33 | 0.01 | actionable hypotheses |
Loss of Helix | 0.29 | 0.01 | actionable hypotheses | ||
Altered Transmembrane protein | 0.28 | 3.7e-04 | actionable hypotheses | ||
Altered Ordered interface | 0.26 | 0.01 | actionable hypotheses | ||
Altered Stability | 0.20 | 0.01 | actionable hypotheses | ||
Altered DNA binding | 0.16 | 0.04 | actionable hypotheses | ||
Gain of N-linked glycosylation at N110 | 0.05 | 0.02 | actionable hypotheses |