Table 1.
Compound heterozygous variants of LTBP2 causing JOAG.
| Gene | LTBP2 | LTBP2 |
|---|---|---|
| hg19 Position | chr14:74978010 | chr14:74968229 |
| Genomic region | 14q24.3 | |
| Reference genomic allele | G | A |
| Alternate genomic allele | C | C |
| GenBank | NM_000428.2 | |
| cDNA change | c.2966C>G | c.5235T>G |
| Amino acid change | p.(Pro989Arg) | p.(Asn1745Lys) |
| Segregates with the phenotype | Yes | Yes |
| dbSNP rsID | rs76172717 | rs528254230 |
| ExAC allele frequency | 0.005512 | 0.0002231 |
| No. ExAC European (Non-Finnish) alleles | 2 homozygotes | 0 homozygotes |
| ExAC Europeans (Non-Finnish) MAF | 0.002054 | 0.000015 |
| 1000 genome | 0.0056 | 0.0002 |
| TOPMed | 0.0015 | 0.00002 |
| ClinVar | Absent | Absent |
| MAF in-house exomes (n = 109) | 0.00917 | Absent |
| SIFT | Damaging | Damaging |
| Polyphen2 | Possibly damaging | Probably damaging |
| MutationTaster | Damaging | Damaging |
| MutationAssessor | Medium | Medium |
| Fathmm | Damaging | Damaging |
| Provean | Deleterious | Deleterious |
| CADD | 25.1 | 24.3 |
LTBP2: Latent transforming growth factor-beta-binding protein 2; JOAG: Juvenile open angle glaucoma.