Table 2 Overview of molecular findings in RAX2-associated autosomal recessive retinitis pigmentosa (ARRP)
Genotype | Population frequency | Prediction of pathogenicity | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
g.notation (hg19) | c.notation | p.notation | Zygosity | gnomAD | ExAC | dbSNP | Variant class (ACMG) | Polyphen2 | SIFT | Mutation Taster | CADD | Align GVGD | Grantham score | |
Patient I | chr19:g.3770839dup | c.335dup | p.Ala113Glyfs*178 | Homozygous | 8.40E-06 | – | – | Pathogenic (class 5) | – | – | – | – | – | – |
Patient II | chr19:g.3770839dup | c.335dup | p.Ala113Glyfs*178 | Homozygous | 8.40E-06 | – | – | Pathogenic (class 5) | – | – | – | – | – | – |
Patient III | chr19:g.3771337_3774298del | – | – | Homozygous | – | – | – | Pathogenic (class 5) | – | – | – | – | – | – |
Patient IV | chr19:g.3771596A>G | c.145T>C | p.Ser49Pro | Homozygous | – | – | – | Likely pathogenic (class 4) | Probably damaging | Deleterious | Disease causing | 26.5 | C65 | 74 |
Patients V & VI | chr19:g.3771586G>C | c.155C>G | p.Pro52Arg | Heterozygous | – | – | – | Likely pathogenic (class 4) | Probably damaging | Deleterious | Disease causing | 26.9 | C65 | 103 |
chr19:g.3765788_3772920del | – | – | Heterozygous | – | – | – | Pathogenic (class 5) | – | – | – | – | – | – | |
