ADPRH

Chr 3

ADP-ribosylarginine hydrolase

Also known as: ARH1, hARH1

NCBI Gene: 141 ENSG00000144843 UniProt: P54922 OMIM: 603081

The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.28

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.28LOEUF

pLI 0.000

Z-score 0.82

OE 0.76 (0.47–1.28)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.20Z-score

OE missense 0.96 (0.85–1.08)

192 obs / 200.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.76 (0.47–1.28)

0≤0.351.4

Missense OE?0.96 (0.85–1.08)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 10 / 13.2Missense obs/exp: 192 / 200.0Syn Z: -0.13

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

453 rare PASS variants

Rare truncating (LoF)

1 in 1,000

60 rare PASS variants

Rare synonymous (reference)

1 in 310

175 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ADPRH. 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 1,400
South Asian	~43k	1 in 86	1 in 780
Remaining (unassigned)	~30k	1 in 100	1 in 720
European (Finnish)	~27k	1 in 1,400	≈ 1 in 8,900
Admixed American	~22k	1 in 130	1 in 650
African / African American	~21k	1 in 140	1 in 550
East Asian	~20k	1 in 300	≈ 1 in 4,900
Ashkenazi Jewish	~13k	1 in 820	1 in 810
Middle Eastern	~2,884	1 in 120	none seen

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): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓