AK3

Chr 9

adenylate kinase 3

Also known as: AK3L1, AK6, AKL3L, AKL3L1, FIX

NCBI Gene: 50808ENSG00000147853UniProt: P27144

The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…
1
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.39
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?
1.39LOEUF
pLI 0.000
Z-score 0.73
OE 0.74 (0.42–1.39)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.97Z-score
OE missense 1.50 (1.33–1.69)
185 obs / 123.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.74 (0.42–1.39)
0≤0.351.4
Missense OE?1.50 (1.33–1.69)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 7 / 9.4Missense obs/exp: 185 / 123.5Syn Z: -1.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AK3 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients