Table 2.
Protein | nsSNP ID | Mutation | PMut | I-Mutant 2.0 | ConSurf | ||||
---|---|---|---|---|---|---|---|---|---|
Score and percentage | Predictiona | Stability | RI | DDG (kcal/mol) | Conservation scoreb | Prediction | |||
MYB | rs1302072057 | R73L | 0.86 (91%) | Disease | Decrease | 9 | − 0.90 | 9 | Highly conserved and exposed (f) |
rs1302072057 | R73Q | 0.73 (87%) | Disease | Decrease | 9 | − 1.38 | 9 | Highly conserved and exposed (f) | |
rs866246271 | C78Y | 0.79 (89%) | Disease | Decrease | 2 | − 0.07 | 9 | Highly conserved and buried (s) | |
rs1246761830 | K84E | 0.52 (79%) | Disease | Decrease | 1 | − 0.30 | 9 | Highly conserved and exposed (f) | |
rs1231582413 | P94R | 0.72 (86%) | Disease | Decrease | 7 | − 0.42 | 9 | Highly conserved and exposed (f) | |
rs1776412940 | W95L | 0.86 (91%) | Disease | Decrease | 7 | − 0.99 | 9 | Highly conserved and exposed (f) | |
rs1361650612 | G111S | 0.80 (89%) | Disease | Decrease | 9 | − 1.03 | 9 | Highly conserved and exposed (f) | |
rs1316378738 | A158E | 0.82 (90%) | Disease | Decrease | 7 | − 1.28 | 9 | Highly conserved and buried (s) | |
rs1583273308 | R176Q | 0.86 (91%) | Disease | Decrease | 8 | − 0.51 | 9 | Highly conserved and exposed (f) | |
rs1179275735 | N183S | 0.82 (90%) | Disease | Decrease | 4 | − 0.04 | 9 | Highly conserved and exposed (f) | |
rs1335964521 | R191Q | 0.77 (88%) | Disease | Decrease | 9 | − 1.13 | 9 | Highly conserved and exposed (f) | |
rs1444007668 | K192E | 0.55 (80%) | Disease | Decrease | 5 | − 0.95 | 9 | Highly conserved and exposed (f) | |
rs1777011832 | D286Y | 0.64 (84%) | Disease | Increase | 2 | 0.11 | 2 | Exposed | |
rs1247338239 | W406C | 0.65 (84%) | Disease | Decrease | 6 | − 1.49 | 7 | Buried | |
rs1247579811 | P574S | 0.63 (84%) | Disease | Decrease | 9 | − 1.01 | 9 | Highly conserved and exposed (f) | |
rs775717051 | A594P | 0.65 (84%) | Disease | Increase | 2 | − 1.01 | 9 | Highly conserved and buried (s) | |
rs756830286 | G603S | 0.50 (82%) | Neutral | Decrease | 6 | − 1.52 | 9 | Highly conserved and exposed (f) | |
MYBL1 | rs767355502 | R68C | 0.39 (86%) | Neutral | Decrease | 3 | − 0.73 | 9 | Highly conserved and exposed (f) |
rs767355502 | R68H | 0.86 (91%) | Disease | Decrease | 7 | − 1.31 | 9 | Highly conserved and exposed (f) | |
rs1472109411 | P83T | 0.81 (89%) | Disease | Decrease | 4 | 0.08 | 9 | Highly conserved and exposed (f) | |
rs766676175 | G122S | 0.76 (88%) | Disease | Decrease | 7 | − 0.52 | 9 | Highly conserved and exposed (f) | |
rs768073245 | R156W | 0.82 (90%) | Disease | Decrease | 7 | − 1.04 | 9 | Highly conserved and exposed (f) | |
rs1299187617 | R160H | 0.77 (88%) | Disease | Decrease | 9 | − 1.17 | 9 | Highly conserved and exposed (f) | |
rs866260709 | S175Y | 0.76 (88%) | Disease | Increase | 2 | − 0.64 | 9 | Highly conserved and buried (s) | |
rs1281804000 | R185Q | 0.67 (85%) | Disease | Decrease | 9 | − 1.44 | 4 | Highly conserved and exposed (f) | |
rs1809689475 | E265K | 0.63 (83%) | Disease | Decrease | 5 | − 0.38 | 6 | Exposed | |
rs1225867137 | M276T | 0.32 (89%) | Neutral | Decrease | 5 | − 0.62 | 9 | Exposed | |
rs1808814297 | P512R | 0.86 (91%) | Disease | Decrease | 9 | − 1.25 | 6 | Highly conserved and exposed (f) | |
rs1361362325 | C514W | 0.63 (84%) | Disease | Decrease | 5 | − 1.06 | 9 | Buried | |
rs770108773 | A562E | 0.78 (88%) | Disease | Decrease | 5 | − 0.76 | 9 | Highly conserved and buried (s) | |
rs777095803 | A565P | 0.53 (80%) | Disease | Increase | 0 | − 1.85 | 8 | Highly conserved and exposed (f) | |
rs777150665 | G596R | 0.53 (80%) | Disease | Decrease | 7 | − 1.87 | 9 | Highly conserved and exposed (f) | |
rs1281394929 | G721E | 0.82 (90%) | Disease | Increase | 2 | − 0.27 | 9 | Highly conserved and exposed (f) | |
MYBL2 | rs748449655 | L57R | 0.66 (85%) | Disease | Decrease | 6 | − 0.76 | 9 | Highly conserved and buried (s) |
rs1228232756 | R64C | 0.78 (88%) | Disease | Decrease | 4 | − 0.66 | 9 | Highly conserved and exposed (f) | |
rs867195152 | G102D | 0.86 (91%) | Disease | Decrease | 5 | − 1.45 | 9 | Highly conserved and exposed (f | |
rs1164247754 | R116Q | 0.88 (92%) | Disease | Decrease | 7 | 0.13 | 9 | Highly conserved and exposed (f) | |
rs1323182096 | R124C | 0.89 (92%) | Disease | Decrease | 6 | 0.41 | 9 | Highly conserved and exposed (f) | |
rs1300383239 | N127D | 0.85 (91%) | Disease | Decrease | 6 | − 0.73 | 9 | Highly conserved and exposed (f) | |
rs1295676923 | G166V | 0.88 (92%) | Disease | Increase | 0 | − 0.89 | 9 | Highly conserved and exposed (f) | |
rs968286439 | R167K | 0.87 (91%) | Disease | Decrease | 9 | − 0.98 | 9 | Highly conserved and exposed (f) | |
rs1271670254 | D169G | 0.79 (89%) | Disease | Decrease | 6 | − 1.04 | 9 | Highly conserved and exposed (f) | |
rs1438994955 | S178C | 0.53 (80%) | Disease | Decrease | 2 | − 1.33 | 9 | Highly conserved and exposed (f) | |
rs781229138 | G188C | 0.80 (89%) | Disease | Decrease | 8 | − 2.28 | 5 | Exposed | |
rs1171631148 | G530R | 0.76 (88%) | Disease | Decrease | 4 | − 1.69 | 9 | Highly conserved and exposed (f) | |
rs776972688 | E552V | 0.71 (86%) | Disease | Increase | 2 | 0.08 | 9 | Highly conserved and exposed (f) | |
rs779332836 | G669R | 0.82 (90%) | Disease | Decrease | 7 | − 1.24 | 9 | Highly conserved and exposed (f) | |
rs776117094 | R682W | 0.82 (90%) | Disease | Decrease | 5 | 0.65 | 9 | Highly conserved and exposed (f) |
RI reliability index, DDG free energy change value, (f) predicted functional residue (highly conserved and exposed), (s) predicted structural residue (highly conserved and buried).
aPMut: Disease (Score > 0.5), Neutral (Score ≤ 0.5).
bConSurf: highly variable (1), highly conserved (9).