MYLK4

myosin light chain kinase family member 4, the group of Myosin light chain kinase family

Basic information

Region (hg38): 6:2663628-2770330

Links

ENSG00000145949 ∙ NCBI:340156 ∙ ∙ HGNC:27972 ∙ Uniprot:Q86YV6 ∙ 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 MYLK4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYLK4 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						0
missense			20	1		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			37	5	1	43
Total	0	0	57	6	1

Variants in MYLK4

This is a list of pathogenic ClinVar variants found in the MYLK4 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-2678235-A-G		not specified	Uncertain significance (Sep 27, 2021)
6-2678275-C-A		not specified	Uncertain significance (Aug 16, 2022)
6-2678328-G-A		not specified	Uncertain significance (Apr 25, 2022)
6-2678343-T-A		not specified	Uncertain significance (Oct 05, 2021)
6-2678365-C-T		not specified	Uncertain significance (Oct 05, 2023)
6-2678371-G-T		not specified	Uncertain significance (May 31, 2022)
6-2679319-G-C		not specified	Uncertain significance (May 30, 2024)
6-2679355-G-T		not specified	Uncertain significance (May 16, 2022)
6-2679356-C-T		not specified	Uncertain significance (Sep 27, 2022)
6-2679408-T-C		not specified	Likely benign (Mar 15, 2024)
6-2680240-C-A		not specified	Uncertain significance (Dec 30, 2023)
6-2680278-A-T		not specified	Uncertain significance (Apr 26, 2024)
6-2683061-C-A		not specified	Uncertain significance (Feb 12, 2024)
6-2683078-C-G		not specified	Uncertain significance (Sep 14, 2023)
6-2683128-C-T		not specified	Uncertain significance (Aug 14, 2023)
6-2683137-G-A		not specified	Uncertain significance (Mar 28, 2024)
6-2683146-G-T		not specified	Uncertain significance (May 20, 2024)
6-2685330-C-T		not specified	Uncertain significance (Mar 25, 2024)
6-2685350-A-G		not specified	Uncertain significance (Sep 17, 2021)
6-2685359-G-A		not specified	Likely benign (Jan 22, 2024)
6-2685390-C-T		Long QT syndrome	Likely benign (-)
6-2685502-G-C		not specified	Uncertain significance (Mar 01, 2024)
6-2685562-T-C		not specified	Uncertain significance (Dec 01, 2023)
6-2688920-C-T		not specified	Uncertain significance (Apr 04, 2024)
6-2688921-G-T		not specified	Uncertain significance (Feb 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYLK4	protein_coding	protein_coding	ENST00000274643	11	87338

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.06e-13	0.0406	125383	0	365	125748	0.00145

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.781	193	226	0.854	0.0000128	2599
Missense in Polyphen		81	81.543	0.99334		910
Synonymous	1.50	73	91.3	0.800	0.00000609	684
Loss of Function	0.252	20	21.3	0.941	9.81e-7	270

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000424	0.000424
Ashkenazi Jewish	0.000893	0.000893
East Asian	0.0155	0.0156
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000396	0.000396
Middle Eastern	0.0155	0.0156
South Asian	0.000229	0.000229
Other	0.000816	0.000815

dbNSFP

Source: dbNSFP

• Pathway: Platelet activation - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Gastric acid secretion - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Focal Adhesion (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.829
• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.06

Haploinsufficiency Scores

• pHI: 0.219
• hipred: N
• hipred_score: 0.204
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.177

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mylk4

Gene ontology

• Biological process: protein phosphorylation
• Molecular function: myosin light chain kinase activity;ATP binding