Table 2 Effect prediction of the studied variants and general population information
Gene | Exon | DNA change | Aminoacid change | SNPs3D | SIFT | POLYPHEN2 | Grantham | Mutation Taster | AlignGVGD | General population |
|---|---|---|---|---|---|---|---|---|---|---|
LAMA5 | 30 | c.3728 C > T | p.P1243L | 1.19 | 0.02 (Damaging) | 0.635 (Probably Damaging) | 98 | Disease Causing | C65 (High) | rs756101090 4/84492 (ExAC database) |
LAMB2 | 27 | c.4082 C > G | p.S1361 W | 0.07 | 0.00 (Damaging) | 0.999 (Probably Damaging) | 177 | Disease Causing | C65 (High) | – |
MMP24 | 2 | c.355 G > A | p.G119R | −1.84 | 0.07 (Tolerated) | 0.999 (Probably Damaging) | 125 | Disease Causing | C65 (High) | 3/60382 (ExAC database) |
SYNPO2L | 3 | c.473 G > A | p.R158H | −0.70 | 0.01 (Damaging) | 0.999 (Probably Damaging) | 29 | Disease Causing | C25 (Medium) | rs200006608 12/9758 (ExAC database) |
NID1 | 14 | c.2809 G > A | p.V937 M | 1.61 | 0.04 (Damaging) | 0.999 (Probably Damaging) | 21 | Polymorphism | C15 (Low) | rs200467845 11/59184 (ExAC database) |
TJP1 | 5 | c.428 G > A | p.R143Q | 1.22 | 0.08 (Tolerated) | 0.999 (Probably Damaging) | 43 | Polymorphism | C35 (Medium) | rs377122303 7/60349 (ExAC database) |
COL4A5 | 26 | c.1960 G > T | p.D654Y | −0.56 | 0.11 (Tolerated) | 0.999 (Probably Damaging) | 160 | Disease Causing | C65 (High) | – |