Table 4.
Distribution of rare and deleterious variants on four Joubert Syndrome genes from GHR in 13 cases with ritodrine-induced serious cardiac and pulmonary side effects
| Gene Symbol | rsID | Variant deleteriousness score | MAF | SN1275 | SN1923 | SN2931 | SN2956 | SN3230 | SN3828 | SN4181 | SN4211 | SN4407 | SN5021 | SN5209 | SN8592 | SN9899 | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SIFT | CADD | PolyPhen2 | ||||||||||||||||
| AHI1 | rs148000791 | 0.25 | 23.6 | NA | 0.0077 | HET | WT | HET | HET | WT | WT | WT | WT | WT | WT | WT | HET | WT |
| ARL13B | rs193219215 | 0.12 | 20.9 | 0.41 | 0.0008 | WT | WT | WT | WT | HET | WT | WT | WT | WT | WT | WT | HET | WT |
| KIF7 | rs546772749 | 0.01 | 9.2 | 0.01 | 0.0002 | HET | WT | HET | HET | HET | WT | WT | WT | HET | HET | WT | WT | WT |
| rs536773143 | 0.16 | 15.4 | 0.89 | 0.0002 | WT | WT | WT | WT | WT | WT | WT | WT | WT | WT | WT | HET | WT | |
| RPGRIP1L | rs146925098 | 0 | 19.7 | 0.99 | 0.0002 | WT | WT | WT | WT | HET | WT | WT | WT | WT | WT | WT | WT | WT |
SIFT Sorting Intolerant from Tolerant, CADD Combined Annotation Dependent Depletion, PolyPhen2 Polymorphism Phenotyping v2.2.2, AF allele frequency, HET heterozygous, WT wild type, AHI1 Abelson Helper Integration Site 1, ARL13B ADP Ribosylation Factor Like GTPase 13B, KIF7 Kinesin Family Member 7, RPGRIP1L RPGRIP1 Like