BBS1

Chr 11q13.2

Bardet-Biedl syndrome 1

Aliases:: FLJ23590
MANE:: ENST00000318312.12

OMIM: 209901 ↗NCBI: 582 ↗Ensembl ↗

Predicted protein structure

AlphaFold predicted structure

BBS1 · Q8NFJ9

v62025-08-01

Predicted Aligned Error matrix for BBS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.4/ 100

Confident

593 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)19%
Low(50–70)3%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Detailed annotations are loading.

We have HGNC metadata for this gene, but the deeper annotations (ClinVar, gnomAD, PanelApp, …) populate when someone uses the GenoLens extension to look up this gene. Install the extension or check back in a moment.