TUFT1

Chr 1AR

tuftelin 1

Also known as: WHSF

Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]

OMIMResearchGenerating clinical summary…
MultiplemechanismARLOEUF 0.711 OMIM phenotype
Clinical SummaryTUFT1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.71LOEUF
pLI 0.000
Z-score 2.67
OE 0.43 (0.270.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.90Z-score
OE missense 0.83 (0.740.94)
186 obs / 223.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.270.71)
00.351.4
Missense OE?0.83 (0.740.94)
00.61.4
Synonymous OE?0.85
01.21.6
LoF obs/exp: 11 / 25.6Missense obs/exp: 186 / 223.8Syn Z: 1.04
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedTUFT1-related woolly hair and superficial skin fragilityOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.7033th %ile
GOF
0.6932th %ile
LOF
0.3258th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

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

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TUFT1 · 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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