DNAL1

dynein axonemal light chain 1, the group of Dyneins, axonemal outer arm complex subunits

Basic information

Region (hg38): 14:73644875-73703732

Previous symbols: [ "C14orf168" ]

Links

ENSG00000119661

∙ NCBI:83544 ∙ OMIM:610062 ∙ HGNC:23247 ∙ Uniprot:Q4LDG9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

primary ciliary dyskinesia 16 (Moderate), mode of inheritance: AR
primary ciliary dyskinesia 16 (Moderate), mode of inheritance: AR
primary ciliary dyskinesia 16 (Strong), mode of inheritance: AR
primary ciliary dyskinesia (Supportive), mode of inheritance: AD
primary ciliary dyskinesia 16 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 16	AR	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Pulmonary	Pulmonary and audiologic surveillance may be beneficial to assess respiratory and hearing function and institute early management measures; In order to facilitate mucus clearance, aggressive interventions (eg, chest percussion and oscillatory vest), as well as vaccinations and early and aggressive treatment of respiratory infections may be beneficial, though measures including lobectomy or lung transplantation may be necessary; Individuals may require surgery or other interventions related to congenital cardiac malformations	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Gastrointestinal; Pulmonary	20301301; 21496787

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAL1 gene.

Primary_ciliary_dyskinesia_16 (77 variants)
Inborn_genetic_diseases (15 variants)
not_provided (8 variants)
not_specified (6 variants)
Primary_ciliary_dyskinesia (3 variants)
DNAL1-related_disorder (3 variants)
Kartagener_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031427.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				18 clinvar		18
missense	1 clinvar		20 clinvar	1 clinvar		22
nonsense	2 clinvar	2 clinvar				4
start loss						0
frameshift	2 clinvar	2 clinvar	2 clinvar			6
splice donor/acceptor (+/-2bp)			1 clinvar	1 clinvar		2
Total	5	4	23	20	0

Highest pathogenic variant AF is 0.0000199582

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAL1	protein_coding	protein_coding	ENST00000553645	8	58858

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00888	0.942	124644	0	9	124653	0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.19	54	84.8	0.637	0.00000375	1234
Missense in Polyphen		12	20.462	0.58646		315
Synonymous	0.720	27	32.2	0.839	0.00000150	334
Loss of Function	1.70	5	11.1	0.449	4.67e-7	168

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000132	0.000129
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000644	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000358	0.0000354
Middle Eastern	0.0000644	0.0000556
South Asian	0.0000332	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-right asymmetry (PubMed:21496787). {ECO:0000250|UniProtKB:Q9XHH2, ECO:0000303|PubMed:21496787}.;
Pathway: Huntington,s disease - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.119

Intolerance Scores

loftool: 0.699
rvis_EVS: 0.26
rvis_percentile_EVS: 69.83

Haploinsufficiency Scores

pHI: 0.368
hipred: N
hipred_score: 0.398
ghis: 0.479

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dnal1
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; respiratory system phenotype; renal/urinary system phenotype; immune system phenotype; digestive/alimentary phenotype;

Gene ontology

Biological process: outer dynein arm assembly
Cellular component: cytoplasm;microtubule;outer dynein arm
Molecular function: motor activity;protein binding;alpha-tubulin binding;dynein heavy chain binding