ALG10

ALG10 alpha-1,2-glucosyltransferase, the group of Alpha-1,2-glucosyltransferases

Basic information

Region (hg38): 12:34022468-34029694

Links

ENSG00000139133NCBI:84920OMIM:618355HGNC:23162Uniprot:Q5BKT4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ALG10 gene.

  • not_specified (67 variants)
  • not_provided (4 variants)
  • ALG10-related_disorder (3 variants)
  • Developmental_and_epileptic_encephalopathy,_36 (1 variants)
  • Long_QT_syndrome_2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALG10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032834.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
clinvar
4
missense
1
clinvar
65
clinvar
3
clinvar
2
clinvar
71
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 1 65 5 4

Highest pathogenic variant AF is 6.84085e-7

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ALG10protein_codingprotein_codingENST00000266483 37414
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000001320.6181256950531257480.000211
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.02832342331.010.00001123103
Missense in Polyphen6977.9770.884881040
Synonymous-0.2198885.41.030.00000410910
Loss of Function0.9851115.10.7276.48e-7223

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002700.000268
Ashkenazi Jewish0.001190.00119
East Asian0.0003810.000381
Finnish0.00004620.0000462
European (Non-Finnish)0.0002290.000220
Middle Eastern0.0003810.000381
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol.;
Pathway
N-Glycan biosynthesis - Homo sapiens (human);Post-translational protein modification;Metabolism of proteins;Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein;Asparagine N-linked glycosylation (Consensus)

Intolerance Scores

loftool
0.652
rvis_EVS
-0.29
rvis_percentile_EVS
33.2

Haploinsufficiency Scores

pHI
0.302
hipred
N
hipred_score
0.216
ghis
0.606

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.372

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Alg10b
Phenotype
skeleton phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);

Gene ontology

Biological process
dolichol-linked oligosaccharide biosynthetic process
Cellular component
endoplasmic reticulum membrane;integral component of membrane
Molecular function
dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity;dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity