NIT1

Chr 1AR

nitrilase 1

Also known as: BSVD4

This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Brain small vessel disease 4MIM #621313
AR
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
1.08
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.30
OE 0.67 (0.431.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.60Z-score
OE missense 1.12 (1.001.25)
217 obs / 193.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.431.08)
00.351.4
Missense OE?1.12 (1.001.25)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 12 / 17.9Missense obs/exp: 217 / 193.6Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NIT1 · 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.

Search ClinicalTrials.gov →