Gene name | Mutation at nucleotide level | Protein | SIFT | Polyphen | Mutation taster | HSF | (HumVar results) |
---|---|---|---|---|---|---|---|
ITGB3 | c.2 T > C | p.Met1Thr | AFFECT PROTEIN FUNCTION with a score of 0.00 | BENIGN with a score of 0.000 | -disease causing -no abrogation of potential splice sites | No significant splicing motif alteration detected | BENIGN with a score of 0.000 |
ITGB3 | c.1656-1658delCTC | p.Ser553del | - | - | -disease causing -splice site changes | - | - |
ITGB3 | c.1303 G > T | p.Glu435Ter | Affect protein function | - | - | Alteration of an exonic ESE site. Potential alteration of splicing. | - |
ITGB3 | c.155 G > T | p.Cys52Phe | AFFECT PROTEIN FUNCTION with a score of 0.00 | This mutation is predicted to be PROBABLY DAMAGING with a score of 1.000 | disease causing splice site changes | Creation of an exonic ESS site. Potential alteration of splicing. | This mutation is predicted to be PROBABLY DAMAGING with a score of 1.000 |
ITGB3 | c. 538 G > A | p.Gly180Arg | AFFECT PROTEIN FUNCTION with a score of 0.00 | This mutation is predicted to be PROBABLY DAMAGING with a score of 1.000 | disease causing splice site changes | Activation of an exonic cryptic acceptor site, with presence of one or more cryptic branch point(s). Potential alteration of splicing. | This mutation is predicted to be PROBABLY DAMAGING with a score of 1.000 |
ITGB3 | c.401 del A | p.Glu134GlyfsTer10 | – | – | -disease causing -no abrogation of potential splice sites | Alteration of an intronic ESS site. Probably no impact on splicing | – |
ITGA2B | c.1899 del T | p.Cys633TrpfsTer17 | - | - | amino acid sequence changed frameshift protein features might be affected | Creation of an exonic ESS site. Potential alteration of splicing. | - |
ITGA2B | c.409–3 C > G | – | - | - | - | Alteration of the WT acceptor site, most probably affecting splicing. | - |
ITGA2B | c.1392 A > G | p.Pro464Pro | - | - | - | Alteration of the WT donor site, most probably affecting splicing. Alteration of an exonic ESE site. Potential alteration of splicing | - |
ITGA2B | c.286 T > A | p.Cys96Ser | AFFECT PROTEIN FUNCTION with a score of 0.00. | PROBABLY DAMAGING with a score of 1.000 (sensitivity: 0.00; specificity: 1.00) | disease causing -splice site changes | Alteration of an exonic ESE site. Potential alteration of splicing. | PROBABLY DAMAGING with a score of 0.997 (sensitivity: 0.27; specificity: 0.98) |
ITGA2B | c.842 C > T | p.Thr281Ile | TOLERATED with a score of 0.44 | BENIGN with a score of 0.241 (sensitivity: 0.91; specificity: 0.88) | -disease causing amino acid sequence changed protein features (might be) affected | Alteration of an exonic ESE site. Potential alteration of splicing. | This mutation is predicted to be BENIGN |
ITGA2B | c.1071-1072insG | p.Arg358AlafsTer47 | - | - | disease causing amino acid sequence changed frameshift protein features (might be) affected splice site changes | - | - |