ADD1

adducin 1, the group of Adducin family

Basic information

Region (hg38): 4:2843843-2930076

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.

• Inborn genetic diseases (19 variants)
• not provided (10 variants)
• hydrochlorothiazide response - Efficacy (1 variants)
• Hypertension, salt-sensitive essential, susceptibility to (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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	6	9
missense			19		1	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	3	7

Variants in ADD1

This is a list of pathogenic ClinVar variants found in the ADD1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-2875916-A-G		Tracheoesophageal fistula	Likely pathogenic (Jul 01, 2019)
4-2875943-G-A		not specified	Uncertain significance (Feb 06, 2023)
4-2875951-A-C			Likely benign (Sep 01, 2023)
4-2875960-G-T			Benign (Dec 31, 2019)
4-2875990-C-T			Likely benign (Jul 10, 2018)
4-2875995-G-T		not specified	Uncertain significance (Mar 20, 2023)
4-2876013-C-T		not specified	Uncertain significance (Jul 20, 2021)
4-2876044-A-G		ADD1-related disorder	Likely benign (Mar 20, 2023)
4-2882004-A-G		not specified	Uncertain significance (Aug 09, 2021)
4-2884566-C-T		not specified	Uncertain significance (Mar 02, 2023)
4-2884656-A-G		not specified	Uncertain significance (Jan 19, 2024)
4-2884662-T-C		not specified	Uncertain significance (May 18, 2022)
4-2894028-G-A		not specified	Uncertain significance (Dec 28, 2022)
4-2894031-C-G		not specified	Uncertain significance (Jun 02, 2023)
4-2894681-C-T		not specified	Uncertain significance (Aug 04, 2021)
4-2894685-C-T		not specified	Uncertain significance (Jun 03, 2022)
4-2894692-G-A			Benign (Dec 31, 2019)
4-2894699-G-A		not specified	Likely benign (Sep 17, 2021)
4-2898214-A-G		not specified	Uncertain significance (Feb 16, 2023)
4-2898279-T-C			Benign (Dec 31, 2019)
4-2898475-A-T		not specified	Uncertain significance (Sep 29, 2023)
4-2898497-A-C		not specified	Uncertain significance (Feb 13, 2024)
4-2899334-C-T		not specified	Uncertain significance (Jun 11, 2021)
4-2899361-G-T		not specified	Uncertain significance (Sep 26, 2023)
4-2899370-T-C		not specified	Uncertain significance (Oct 25, 2023)

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
0.988	0.0117	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

Haploinsufficiency Scores

• pHI: 0.507
• hipred: Y
• hipred_score: 0.756
• ghis: 0.622

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

Mouse Genome Informatics

• Gene name: Add1
• Phenotype: 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); hematopoietic system 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); growth/size/body region phenotype

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