SELENOW

Chr 19

selenoprotein W

ENSG00000178980 UniProt: P63302 OMIM: 603235

The protein functions as a glutathione-dependent antioxidant that protects against oxidative stress, particularly in skeletal muscle, heart, and brain during development. Mutations cause autosomal recessive congenital myopathy with selenium deficiency-like features, affecting muscle function and neuronal protection. The gene shows low constraint to loss-of-function variation, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Plays a role as a glutathione (GSH)-dependent antioxidant. May be involved in a redox-related process. May play a role in the myopathies of selenium deficiency (By similarity)

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 1.54

Clinical Summary— SELENOW

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.54LOEUF

pLI 0.000

Z-score 0.52

OE 0.79 (0.43–1.54)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.27Z-score

OE missense 1.11 (0.89–1.38)

56 obs / 50.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.79 (0.43–1.54)

0≤0.351.4

Missense OE?1.11 (0.89–1.38)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 6 / 7.5Missense obs/exp: 56 / 50.6Syn Z: -0.09

This gene — mechanism propensity

0.7229th %ile

GOF

0.5759th %ile

LOF

0.3358th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.