NMRAL1

NmrA like redox sensor 1, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 16:4461690-4495763

Links

ENSG00000153406 ∙ NCBI:57407 ∙ OMIM:620004 ∙ HGNC:24987 ∙ Uniprot:Q9HBL8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NMRAL1 gene.

• Inborn genetic diseases (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NMRAL1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			22	1		23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in NMRAL1

This is a list of pathogenic ClinVar variants found in the NMRAL1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-4461790-T-G		not specified	Uncertain significance (Jul 19, 2023)
16-4461800-C-T		not specified	Uncertain significance (Jun 11, 2021)
16-4461822-G-C		not specified	Uncertain significance (May 18, 2023)
16-4461861-C-G		not specified	Uncertain significance (Dec 15, 2023)
16-4461895-C-T		not specified	Uncertain significance (Nov 10, 2022)
16-4463668-C-T		not specified	Uncertain significance (Oct 17, 2023)
16-4463733-G-A		not specified	Uncertain significance (May 18, 2023)
16-4463758-C-T		not specified	Likely benign (Jan 24, 2023)
16-4463808-G-C		not specified	Uncertain significance (Feb 15, 2023)
16-4463826-A-G		not specified	Uncertain significance (Mar 13, 2023)
16-4466172-G-T		not specified	Uncertain significance (Jul 19, 2023)
16-4466254-A-G		not specified	Uncertain significance (Aug 12, 2022)
16-4466260-C-T		not specified	Uncertain significance (Sep 06, 2022)
16-4466261-G-A		not specified	Uncertain significance (Oct 03, 2022)
16-4466288-C-T		not specified	Uncertain significance (Mar 16, 2022)
16-4466300-C-T		not specified	Uncertain significance (Dec 02, 2021)
16-4466320-G-A		not specified	Uncertain significance (Dec 16, 2023)
16-4466353-A-G		not specified	Uncertain significance (Aug 02, 2021)
16-4466365-A-T		not specified	Uncertain significance (Jul 05, 2023)
16-4466374-C-T		not specified	Likely benign (Jan 10, 2022)
16-4466390-C-T		not specified	Uncertain significance (Jun 05, 2023)
16-4469267-T-C		not specified	Uncertain significance (Sep 26, 2022)
16-4469282-G-A		not specified	Uncertain significance (Dec 27, 2023)
16-4469378-G-A		not specified	Uncertain significance (Jun 21, 2023)
16-4469381-T-G		not specified	Uncertain significance (Sep 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NMRAL1	protein_coding	protein_coding	ENST00000574733	5	34084

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000925	0.558	125641	1	106	125748	0.000426

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.734	216	188	1.15	0.0000120	1942
Missense in Polyphen		78	76.458	1.0202		787
Synonymous	-0.835	95	85.2	1.12	0.00000607	621
Loss of Function	0.756	9	11.8	0.762	6.56e-7	132

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00375	0.00369
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000291	0.000290
Middle Eastern	0.000272	0.000272
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Redox sensor protein. Undergoes restructuring and subcellular redistribution in response to changes in intracellular NADPH/NADP(+) levels. At low NADPH concentrations the protein is found mainly as a monomer, and binds argininosuccinate synthase (ASS1), the enzyme involved in nitric oxide synthesis. Association with ASS1 impairs its activity and reduces the production of nitric oxide, which subsecuently prevents apoptosis. Under normal NADPH concentrations, the protein is found as a dimer and hides the binding site for ASS1. The homodimer binds one molecule of NADPH. Has higher affinity for NADPH than for NADP(+). Binding to NADPH is necessary to form a stable dimer. {ECO:0000269|PubMed:17496144, ECO:0000269|PubMed:18263583, ECO:0000269|PubMed:19254724}.
• Pathway: Metabolism of polyamines;Metabolism of amino acids and derivatives;Metabolism;Urea cycle (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.792
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.78

Haploinsufficiency Scores

• pHI: 0.147
• hipred: N
• hipred_score: 0.251
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.892

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Nmral1
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Cellular component: nucleus;cytosol;perinuclear region of cytoplasm
• Molecular function: protein binding;identical protein binding