RPS29

Chr 14q21.3

ribosomal protein S29

Aliases:: S29, uS14
MANE:: ENST00000245458.11

OMIM: 603633 ↗NCBI: 6235 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RPS29 · P62273

v62025-08-01

Predicted Aligned Error matrix for RPS29 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.7/ 100

Very high

56 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)11%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Radial dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders

Disease associations (Open Targets)

Blackfan-Diamond anemia
0.74
Diamond-Blackfan anemia
0.60
Duchenne muscular dystrophy
0.50
influenza
0.46
acute myeloid leukemia with minimal differentiation
0.46
cystic fibrosis
0.39
COVID-19
0.37
severe acute respiratory syndrome
0.37
neuromuscular disease caused by qualitative or quantitative defects of dystrophin
0.32
Becker muscular dystrophy
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Small ribosomal subunit protein uS14

Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688)