ADD3

adducin 3, the group of Adducin family

Basic information

Region (hg38): 10:109996368-110135565

Previous symbols: [ "ADDL" ]

Links

ENSG00000148700NCBI:120OMIM:601568HGNC:245Uniprot:Q9UEY8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • cerebral palsy, spastic quadriplegic, 3 (Limited), mode of inheritance: AR
  • spastic quadriplegic cerebral palsy (Supportive), mode of inheritance: AR
  • cerebral palsy, spastic quadriplegic, 3 (Strong), mode of inheritance: AR
  • complex neurodevelopmental disorder with motor features (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Cerebral palsy, spastic quadriplegic, 3ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingNeurologic23836506

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADD3 gene.

  • not_provided (164 variants)
  • not_specified (80 variants)
  • Cerebral_palsy,_spastic_quadriplegic,_3 (6 variants)
  • ADD3-related_disorder (5 variants)
  • Complex_neurodevelopmental_disorder_with_motor_features (2 variants)
  • Cerebral_palsy (1 variants)
  • Microcephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADD3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016824.5. 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
1
clinvar
45
clinvar
46
missense
1
clinvar
134
clinvar
9
clinvar
3
clinvar
147
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 1 137 54 3

Highest pathogenic variant AF is 0.00000867384

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ADD3protein_codingprotein_codingENST00000356080 14139198
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9990.001201257170241257410.0000954
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3303633810.9520.00001914638
Missense in Polyphen110134.50.817851650
Synonymous-0.1031351331.010.000006841348
Loss of Function5.04437.20.1080.00000207430

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001080.00107
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.00002640.0000264
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin. {ECO:0000269|PubMed:23836506}.;
Disease
DISEASE: Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008]: A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment. {ECO:0000269|PubMed:23836506}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Transport of small molecules;Miscellaneous transport and binding events (Consensus)

Recessive Scores

pRec
0.153

Intolerance Scores

loftool
0.209
rvis_EVS
0.16
rvis_percentile_EVS
64.82

Haploinsufficiency Scores

pHI
0.719
hipred
N
hipred_score
0.465
ghis
0.508

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.190

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Add3
Phenotype
hematopoietic system phenotype; normal phenotype;

Zebrafish Information Network

Gene name
add3a
Affected structure
intrahepatic bile duct
Phenotype tag
abnormal
Phenotype quality
decreased length

Gene ontology

Biological process
barbed-end actin filament capping;actin filament bundle assembly;transmembrane transport
Cellular component
condensed nuclear chromosome;nucleoplasm;cytosol;cytoskeleton;plasma membrane;brush border;cell-cell junction;cell cortex;postsynaptic density;membrane;plasma membrane raft
Molecular function
structural molecule activity;structural constituent of cytoskeleton;calmodulin binding;spectrin binding;actin filament binding