MYL11

myosin light chain 11, the group of Myosin light chains, class 2

Basic information

Region (hg38): 16:30370934-30377991

Previous symbols: [ "MYLPF" ]

Links

ENSG00000180209 ∙ NCBI:29895 ∙ OMIM:617378 ∙ HGNC:29824 ∙ Uniprot:Q96A32 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• arthrogryposis, distal, type 1C (Strong), mode of inheritance: AR
• arthrogryposis, distal, type 1C (Strong), mode of inheritance: AD
• arthrogryposis, distal, type 1C (Strong), mode of inheritance: AR
• arthrogryposis, distal, type 1C (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Arthrogryposis, distal, type 1C	AD/AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Musculoskeletal	32707087

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYL11 gene.

• not_specified (27 variants)
• Arthrogryposis,_distal,_type_1C (7 variants)
• Distal_arthrogryposis (4 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYL11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013292.5. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense		4	27	1		32
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			1			1
Total	0	4	29	1	0

Highest pathogenic variant AF is 0.00004027641

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYL11	protein_coding	protein_coding	ENST00000322861	7	7058

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.760	0.238	125726	0	10	125736	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.650	88	107	0.823	0.00000589	1143
Missense in Polyphen		24	45.599	0.52633		487
Synonymous	0.637	37	42.3	0.875	0.00000266	293
Loss of Function	2.48	1	9.07	0.110	3.82e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000617	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Focal adhesion - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Focal Adhesion;Smooth Muscle Contraction;Muscle contraction;ErbB1 downstream signaling (Consensus)

Intolerance Scores

• loftool: 0.513
• rvis_EVS: -0.27
• rvis_percentile_EVS: 33.97

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.319
• ghis: 0.584

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mylpf
• 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); respiratory system phenotype; muscle phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: muscle contraction;immune response;skeletal muscle tissue development
• Cellular component: lysosomal membrane;cytosol;muscle myosin complex
• Molecular function: calcium ion binding;structural constituent of muscle