Table 2 Pathogenicity prediction at protein level of all variants by several in silico tools.
From: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model
GENE | VARIANT | PolyPhen-2 | SIFT | Pmut | Mutation Taster | SCORE |
|---|---|---|---|---|---|---|
BBS1 | p.(Trp23*) | Pathological | — | |||
p.(Val366Asp) | Possibly damaging | Damaging | Pathological | Disease causing | 4/4 | |
p.(His504Hisfs*48) | Pathological | — | ||||
BBS5 | p.(Arg138Cys) | Probably damaging | Damaging | Pathological | Disease causing | 4/4 |
p.(Phe180Phefs*6) | Pathological | — | ||||
p.(Asn184Ser) | Probably damaging | Damaging | Neutral | Disease causing | 3/4 | |
BBS6 | p.(Gly411Ala) | Probably damaging | Damaging | Neutral | Disease causing | 3/4 |
