ADD1

adducin 1, the group of Adducin family

Basic information

Region (hg38): 4:2843844-2930076

Links

ENSG00000087274 ∙ NCBI:118 ∙ OMIM:102680 ∙ HGNC:243 ∙ Uniprot:P35611 ∙ 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 ADD1 gene.

• not_specified (85 variants)
• not_provided (10 variants)
• Neurodevelopmental_disorder (1 variants)
• Esophageal_atresia/tracheoesophageal_fistula (1 variants)
• ADD1-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADD1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001354761.2. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			4	5	6	15
missense			86	2	1	89
nonsense						0
start loss		1				1
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	1	92	7	7

Highest pathogenic variant AF is 6.9637207e-7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADD1	protein_coding	protein_coding	ENST00000264758	14	86220

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125513	0	235	125748	0.000935

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.804	401	449	0.893	0.0000264	5011
Missense in Polyphen		154	195.46	0.7879		2220
Synonymous	1.30	163	185	0.879	0.0000127	1520
Loss of Function	4.74	5	35.5	0.141	0.00000182	433

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000356	0.000355
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00550	0.00551
European (Non-Finnish)	0.000256	0.000255
Middle Eastern	0.0000545	0.0000544
South Asian	0.00225	0.00226
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin.
• Pathway: Diuretics Pathway, Pharmacodynamics;XBP1(S) activates chaperone genes;Caspase-mediated cleavage of cytoskeletal proteins;Apoptotic cleavage of cellular proteins;Apoptotic execution phase;Apoptosis;Programmed Cell Death;Transport of small molecules;Miscellaneous transport and binding events (Consensus)

Recessive Scores

• pRec: 0.390

Intolerance Scores

• loftool: 0.669
• rvis_EVS: -0.93
• rvis_percentile_EVS: 9.68

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.582

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Biological process: cell morphogenesis;in utero embryonic development;cell volume homeostasis;hemoglobin metabolic process;actin cytoskeleton organization;erythrocyte differentiation;positive regulation of protein binding;multicellular organism growth;IRE1-mediated unfolded protein response;homeostasis of number of cells within a tissue;barbed-end actin filament capping;actin filament bundle assembly;transmembrane transport;cellular response to calcium ion;positive regulation of establishment of endothelial barrier;positive regulation of adherens junction organization
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;cytoskeleton;plasma membrane;cell-cell adherens junction;focal adhesion;F-actin capping protein complex;postsynaptic density;nuclear body;plasma membrane raft
• Molecular function: RNA binding;actin binding;structural molecule activity;calmodulin binding;transcription factor binding;spectrin binding;protein homodimerization activity;cadherin binding;protein heterodimerization activity;actin filament binding