AMY1B

protein-coding

amylase alpha 1B, the group of Amylases alpha

Gene summary

Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008]

Previous symbols:

AMY1

MANE transcript

NM_001008218.2

Inheritance

—

ClinVar variants

U:7B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.54

Max pathogenic AF

—

Genomic locus

chr1:103,687,415-103,696,454

External References & Databases

Ensembl (ENSG00000174876)

Transcript & Mutation Effects

hg38 • Region Span ~9.0 kb

Loading mutation effect viewer...

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 AMY1B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001008218.2. 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						0
missense			7 clinvar	1 clinvar		8
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	7	1	0	8

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001008218.2	RefSeq	NP_001008219.1	10	MANE Select
ENST00000330330.10	Ensembl	ENSP00000330484.5	10	MANE Select
NM_001386925.1	RefSeq	NP_001373854.1	10	Standard
ENST00000370080.7	Ensembl	ENSP00000359097.3	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Starch and sucrose metabolism - Homo sapiens (human)
Carbohydrate digestion and absorption - Homo sapiens (human)
Salivary secretion - Homo sapiens (human)
Glycogen synthetase deficiency
Glycogenosis, Type III. Cori disease, Debrancher glycogenosis

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000330330
Coding exons: 10
Length: 9266
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0941	18	19.2	0.940	9.33e-7	3400
Missense (PolyPhen)		8	9.9831	0.80135		1541
Synonymous	0.619	4	5.92	0.676	3.14e-7	927
Loss of Function	-0.801	4	2.60	1.54	1.62e-7	293

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.402

Essentials

Essential (CRISPR): N
Indispensability pred.: N
Indispensability score: 0.254

Gene Damage Prediction

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