AlphaFold predicted structure
MRPS2 · Q9Y399

Mean pLDDT
82.3/ 100
Confident
296 residues
Confidence breakdown
- Very high(≥ 90)71%
- Confident(70–90)3%
- Low(50–70)5%
- Very low(< 50)21%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
mitochondrial ribosomal protein S2
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalcombined oxidative phosphorylation deficiency 36
mitochondrial disease
inborn mitochondrial metabolism disorder
Isolated anophthalmia - microphthalmia
nanophthalmia
microphthalmia, isolated, with coloboma
microphthalmia
isolated microphthalmia 7
Microphthalmia - cataract
liver disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Small ribosomal subunit protein uS2m
Required for mitoribosome formation and stability, and mitochondrial translation
MRPS2 · Q9Y399

Mean pLDDT
82.3/ 100
Confident
296 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0