A1BG

protein-coding

alpha-1-B glycoprotein, the group of Immunoglobulin like domain containing

Gene summary

The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]

MANE transcript

NM_130786.4

Inheritance

—

ClinVar variants

U:85B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr19:58,345,178-58,353,492

External References & Databases

Ensembl (ENSG00000121410)

Transcript & Mutation Effects

hg38 • Region Span ~8.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to A1BG variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 82

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_130786.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			83 clinvar	2 clinvar		85
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	85	2	0	87

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_130786.4	RefSeq	NP_570602.2	8	MANE Select
ENST00000263100.8	Ensembl	ENSP00000263100.2	8	MANE Select
ENST00000598345.2	Ensembl	ENSP00000521034.1	1	Standard
ENST00000600966.1	Ensembl	ENSP00000470909.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neutrophil degranulation
Innate Immune System
Immune System
Platelet degranulation
Response to elevated platelet cytosolic Ca2+

Biological Process

platelet degranulation
biological_process
neutrophil degranulation

Molecular Function

molecular_function

Cellular Component

extracellular region
extracellular space
platelet alpha granule lumen
secretory granule lumen
collagen-containing extracellular matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000263100
Coding exons: 8
Length: 8322
Individuals with no LoFs: 125614
Homozygous LoFs: 0
Heterozygous LoFs: 134
Defined: 125748
p: 0.000533

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0861	298	294	1.01	0.0000188	3115
Missense (PolyPhen)		104	101.39	1.0257		1127
Synonymous	-0.275	141	137	1.03	0.00000920	1080
Loss of Function	0.873	15	19.1	0.785	9.13e-7	209

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00050	0.00049	rare
Latino/Admixed American	0.00026	0.00026	rare
Ashkenazi Jewish	0.0060	0.0060	notable
East Asian	0.00083	0.00082	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00026	0.00025	rare
South Asian	0.00026	0.00026	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.316

Intolerance Scores

LoFtool: 0.882
RVIS EVS: -0.47
RVIS percentile EVS: 23.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.659

Gene Damage Prediction

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