Table 2.
Evaluation of Novel BBS Missense Variants
| Gene-Exon | Predicted Amino Acid Change | Nucleotide Change | State | Third Mutated Allele | Con-served | Computational Prediction |
Present in Controls | Report | |
|---|---|---|---|---|---|---|---|---|---|
| PolyPhen Prediction | Remark | ||||||||
| BBS1-EX15 | R512H | c.1535G>A | Heter | No | Yes | Possibly damaging | Pathogenic | No | This study |
| BBS10-EX2 | A323V | c.968C>T | Homo | No | Yes | Likely benign | Neutral | No | This study |
| BBS10-EX2 | L445I | c.1333C>A | Heter | Yes | No | Likely benign | Neutral | No | This study |
| BBS10-EX2 | V602L | c.1804G>C | Heter | No | Yes | Likely benign | Neutral | No | This study |
| BBS5-EX3 | L50R | c.149T>G | Homo | No | Yes | Probably damaging | Pathogenic | No | This study |
| BBS6-EX3 | R309H | c.926G>A | Heter | Yes | No | Likely benign | Neutral | No | This study |
| BBS8_EX5 | K95R | c.284A>G | Heter | Yes | No | Likely benign | Neutral | No | This study |
| BBS8_EX5 | M135I | c.405G>A | Heter | Yes | Yes | Likely benign | Neutral | No | This study |
| BBS8-EX11 | F337L | c.1011C>G | Heter | Yes | Yes | Probably damaging | Pathogenic | No | This study |
| BBS9-EX5 | Q132H | c.396G>C | Heter | Yes | Yes | Possibly damaging | Pathogenic | No | This study |
Heter, heterozygous; Homo, homozygous.