Table 2 of Sodi, Mol Vis 2014; 20:1717-1731.
DNA Level (cDNA) Protein Level (p.) | Conserved nucleotide (phyloP: −14.1;6.4) | Physico chemical difference Grantham [0–215] | Variation is in protein domain | Align GVGD | SIFT | Mutation Taster |
---|---|---|---|---|---|---|
c.4798G>C (p.Gly1600Arg) | Highly (phyloP: 5.86) | Moderate (Grantham dist.: 125) | FERM domain | C65 (GV:0.00 - GD: 125.13) | Deleterious (score: 0, median: 3.70) | disease causing (p value: 1) |
c.5810T>C (p.Leu1937Pro) | Highly (phyloP: 4.73) | Moderate (Grantham dist.: 98) | FERM domain (Band 4.1 domain) | C0 (GV:353.86 - GD: 0.00) | Deleterious (score: 0, median: 3.69) | disease causing (p value: 1) |
c.4039C>A (p.Arg1347Ser) | Weakly (phyloP: 1.50) | Moderate (Grantham dist.: 110) | FERM, N-terminal | C0 (GV:241.31 - GD: 21.04) | Deleterious (score: 0, median: 3.70) | disease causing (p value: 1) |
c.977T>C (p.Leu326Pro) | Highly (phyloP: 5.13) | Moderate (Grantham dist.: 98) | Myosin head, motor domain | GVGD: C0 (GV:234.72 - GD: 50.17) | Deleterious (score: 0, median: 3.71) | disease causing (p value: 1) |