Table 3 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.1729T>C (p.Cys577Arg) | Moderately (phyloP: 3.92) | Large (Grantham dist.: 180) | EGF-like, laminin | C65 (GV:0.00 – GD: 179.53) | Deleterious (score: 0, median: 3.85) | disease causing (p value: 1) |
c.4144T>C (p.Trp1382Arg) | Moderately (phyloP: 3.76) | Moderate (Grantham dist.: 101) | Fibronectin, type III | C0 (GV:268.54 – GD: 82.54) | Deleterious (score: 0, median: 3.83) | disease causing (p value: 1) |
c.11831C>A p.Ala3944Asp | Highly (phyloP: 5.61) | Moderate (Grantham dist.: 126) | Fibronectin, type III | C65 (GV:0.00 – GD: 125.75) | Deleterious (score: 0, median: 3.85) | disease causing (p value: 1) |
c.1040A>G (p.Asp347Gly) | Moderately (phyloP: 3.35) | Moderate (Grantham dist.: 94) | Laminin, N-terminal | GVGD: C0 (GV:213.16 – GD: 64.73) | Deleterious (score: 0, median: 3.85) | disease causing (p value: 1) |
c.7246A>G (p:Asn2416Asp) | Moderately (phyloP: 3.68) | Small (Grantham dist.: 23) | Fibronectin, type III | C0 (GV:213.69 – GD: 22.66) | Deleterious (score: 0, median: 3.85) | disease causing (p value: 1) |