ANKRD29

Chr 18

ankyrin repeat domain 29

NCBI Gene: 147463 ENSG00000154065 UniProt: Q8N6D5

ANKRD29 encodes a protein predicted to be located in cellular membranes. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and developmental delay. The gene shows minimal constraint against loss-of-function variants.

ResearchSummary from RefSeq

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.32

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?

1.32LOEUF

pLI 0.000

Z-score 0.57

OE 0.85 (0.56–1.32)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.45Z-score

OE missense 0.90 (0.79–1.03)

153 obs / 169.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.85 (0.56–1.32)

0≤0.351.4

Missense OE?0.90 (0.79–1.03)

0≤0.61.4

Synonymous OE?0.80

0≤1.21.6

LoF obs/exp: 14 / 16.5Missense obs/exp: 153 / 169.6Syn Z: 1.31

Background carrier burden — how many people carry a rare variant somewhere in ANKRD29?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

460 rare PASS variants

Rare truncating (LoF)

1 in 1,100

82 rare PASS variants

Rare synonymous (reference)

1 in 380

163 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANKRD29. 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 170	1 in 1,000
South Asian	~43k	1 in 100	1 in 2,600
Remaining (unassigned)	~30k	1 in 92	1 in 360
European (Finnish)	~27k	1 in 1,100	≈ 1 in 16,000
Admixed American	~22k	1 in 140	1 in 1,600
African / African American	~21k	1 in 78	1 in 1,600
East Asian	~20k	1 in 170	1 in 1,000
Ashkenazi Jewish	~13k	1 in 590	none seen
Middle Eastern	~2,884	1 in 140	≈ 1 in 1,400

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.

Exome coverage (gnomAD): 9 of 10 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: 9 of 10 (exon 1 below).? see exons ↓