Demographic, molecular and clinical data of patients identified to carry rare non-synonymous missense substitutions in UNC93B1
| Family . | Disease segregation . | Ethnicity . | Nucleotide substitution . | Amino acid substitution . | gnomAD . | Combined VEP damagea . | CADD . | Phenotype . |
|---|---|---|---|---|---|---|---|---|
| AGS1861 | Four (two M, two F) across three generations | North African | c.1574_1575delinsCT (Het) | Arg525Pro (R525P) | 0 | 0.81 | - | CBL |
| AGS2568 | M (history of disease in untested mother, MA, and MG) | White European | c.989T>G (Het) | Leu330Arg (L330R) | 8/1,552,226 | 0.93 | 29.8 | CBL |
| AGS2650 | F (parental DNA unavailable) | Indian | c.951C>G (Hom) | Ile317Met (I317M) | 0 | 0.70 | 24 | SLE |
| AGS2672 | F (mother negative, paternal DNA unavailable) | White European | c.1398A>C (Het) | Arg466Ser (R466S) | 0 | 0.86 | 22.3 | CBL |
| AGS2898 | F (variant inherited from asymptomatic mother) | White European | c.973G>T (Het) | Gly325Cys (G325C) | 0 | 0.93 | 25.7 | SLE |
| Family . | Disease segregation . | Ethnicity . | Nucleotide substitution . | Amino acid substitution . | gnomAD . | Combined VEP damagea . | CADD . | Phenotype . |
|---|---|---|---|---|---|---|---|---|
| AGS1861 | Four (two M, two F) across three generations | North African | c.1574_1575delinsCT (Het) | Arg525Pro (R525P) | 0 | 0.81 | - | CBL |
| AGS2568 | M (history of disease in untested mother, MA, and MG) | White European | c.989T>G (Het) | Leu330Arg (L330R) | 8/1,552,226 | 0.93 | 29.8 | CBL |
| AGS2650 | F (parental DNA unavailable) | Indian | c.951C>G (Hom) | Ile317Met (I317M) | 0 | 0.70 | 24 | SLE |
| AGS2672 | F (mother negative, paternal DNA unavailable) | White European | c.1398A>C (Het) | Arg466Ser (R466S) | 0 | 0.86 | 22.3 | CBL |
| AGS2898 | F (variant inherited from asymptomatic mother) | White European | c.973G>T (Het) | Gly325Cys (G325C) | 0 | 0.93 | 25.7 | SLE |
CADD, Combined Annotation Dependent Depletion score; F: female; Het: heterozygous; Hom: homozygous; M: male; MA: maternal aunt; MG: maternal grandfather; Pat: paternal. UNC93B1 (ENST00000227471.7/NM_030930.4; NP_112192.2).
Based on top-performing variant effect predictors from Livesey and Marsh (2023).