OR1S1

Chr 11

olfactory receptor family 1 subfamily S member 1

Also known as: OR11-232, OST034

NCBI Gene: 219959 ENSG00000280204 UniProt: Q8NH92

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.89

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.89LOEUF

pLI 0.000

Z-score -0.47

OE 1.23 (0.65–1.89)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.83Z-score

OE missense 1.41 (1.26–1.57)

228 obs / 162.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.23 (0.65–1.89)

0≤0.351.4

Missense OE?1.41 (1.26–1.57)

0≤0.61.4

Synonymous OE?1.32

0≤1.21.6

LoF obs/exp: 6 / 4.9Missense obs/exp: 228 / 162.2Syn Z: -2.00

Background carrier burden — how many people carry a rare variant somewhere in OR1S1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 69

448 rare PASS variants

Rare truncating (LoF)

1 in 2,800

41 rare PASS variants

Rare synonymous (reference)

1 in 210

171 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OR1S1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 94	1 in 2,300
South Asian	~43k	1 in 68	1 in 1,700
Remaining (unassigned)	~30k	1 in 61	≈ 1 in 7,500
European (Finnish)	~27k	1 in 320	none seen
Admixed American	~22k	1 in 67	≈ 1 in 5,700
African / African American	~21k	1 in 67	1 in 1,700
East Asian	~20k	1 in 110	none seen
Ashkenazi Jewish	~13k	1 in 500	none seen
Middle Eastern	~2,884	1 in 66	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.