ACE Mutation Browser

Distribution of variants

1682
variants

Missense1385 (82.3%)
In-frame indels / frameshift / nonsense210 (12.5%)
Signal peptide87 (5.2%)

Among these 1682 variants, 608 (36.2%) were classified as damaging, including 17 signal peptide, 210 in-frame indels / frameshift / nonsense, and 381 missense variants. The estimated carrier frequency of damaging ACE variants was 1.97% (~1/50).

Top 24 ACE-lowering variants

Combined carrier frequency in gnomAD v4.1.0

7.16%

~1 in 14 individuals

The 24 variants associated with experimentally confirmed reduced blood ACE levels (LOW ACE) had a combined estimated carrier frequency of 7.16% under a rare-variant independence model.

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Rows

Genome browser

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P LP VUS LB B

Frequency

gnomAD allele frequencies

Dataset

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Map view

Population view uses country boundaries with transparent ancestry-region overlays. Markers denote cohort locations, not territorial boundaries.

Max AF

Population

50 Most Frequent ACE variants

Population table

AlphaFold DB model AF-P12821-F1 (model_v6) · EMBL-EBI & DeepMind

Predicted protein structure — not an experimentally determined structure.

Jumper et al. (2021); Varadi et al. (2022)

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Mutation class

3D Protein Viewer

ACE protein

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Pathogenic

Uncertain

Benign

Selected residue

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Colors are derived from local consensus annotations, not external clinical assertions.

Structural Effects

Epitope Profiling

mAb-based effects (% of control).

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Plasma ACE

Mean plasma ACE level (%) for variants.

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≤50 50–80 80–120 120–150 150–200 ≥200

ACE mutations with low blood ACE levels

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Publications

References used in ACE mutation tables.

About

ACE Mutation Browser is a research interface for the project’s curated ACE mutation tables.

Data and software credits, licences, and citation requirements

Guide

A brief introduction to finding, comparing, and interpreting variants in this browser.