MR1

Chr 1

major histocompatibility complex, class I-related

Also known as: HLALS

MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome. [provided by RefSeq, Jul 2015]

ResearchGenerating clinical summary…
2
Active trials
131
Pubs (1 yr)
P/LP submissions
P/LP missense
1.83
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.83LOEUF
pLI 0.000
Z-score -1.33
OE 1.35 (0.971.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.34Z-score
OE missense 1.07 (0.951.20)
205 obs / 191.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.35 (0.971.83)
00.351.4
Missense OE?1.07 (0.951.20)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 23 / 17.1Missense obs/exp: 205 / 191.6Syn Z: -0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MR1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.