BTN1A1

Chr 6

butyrophilin subfamily 1 member A1

Also known as: BT, BTN, BTN1

Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
P/LP submissions
P/LP missense
1.08
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.26
OE 0.70 (0.471.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.32Z-score
OE missense 0.78 (0.700.87)
229 obs / 292.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.70 (0.471.08)
00.351.4
Missense OE?0.78 (0.700.87)
00.61.4
Synonymous OE?0.80
01.21.6
LoF obs/exp: 15 / 21.3Missense obs/exp: 229 / 292.6Syn Z: 1.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BTN1A1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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