MYL11

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

Basic information

Region (hg38): 16:30370934-30377991

Previous symbols: [ "MYLPF" ]

Links

ENSG00000180209NCBI:29895OMIM:617378HGNC:29824Uniprot:Q96A32AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

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

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Arthrogryposis, distal, type 1CAD/ARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingMusculoskeletal32707087

ClinVar

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

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.

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
17
clinvar
17
nonsense
0
start loss
0
frameshift
1
clinvar
1
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 19 0 0

Variants in MYL11

This is a list of pathogenic ClinVar variants found in the MYL11 region.

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

Position Type Phenotype Significance ClinVar
16-30375848-T-C not specified Likely benign (Jan 09, 2025)3876548
16-30375853-G-A not specified Uncertain significance (Jul 17, 2024)3401033
16-30375860-G-C not specified Uncertain significance (Jan 24, 2024)3159317
16-30375890-C-A Arthrogryposis, distal, type 1C Uncertain significance (Mar 11, 2024)3237480
16-30375897-C-G not specified Uncertain significance (Dec 01, 2022)3159326
16-30376146-C-T Distal arthrogryposis • Arthrogryposis, distal, type 1C Pathogenic/Likely pathogenic (Nov 30, 2020)916688
16-30376200-G-A not specified Uncertain significance (Jun 22, 2021)3159283
16-30376425-C-T not specified Uncertain significance (Aug 17, 2021)3159286
16-30376426-G-A not specified Uncertain significance (May 15, 2024)3297567
16-30376432-A-G not specified Uncertain significance (Dec 15, 2023)3159289
16-30376504-C-G not specified Uncertain significance (Feb 15, 2023)2471023
16-30376511-C-G not specified Uncertain significance (Jan 03, 2024)3159294
16-30376526-G-C not specified Uncertain significance (Nov 20, 2023)3159300
16-30376529-T-C Arthrogryposis, distal, type 1C Uncertain significance (Jul 30, 2021)3779996
16-30376623-C-CCGACCCTGAGGATGTGAT Arthrogryposis, distal, type 1C Uncertain significance (May 10, 2022)2433958
16-30376644-C-A not specified Uncertain significance (Aug 04, 2023)2616180
16-30376646-G-A not specified Uncertain significance (Nov 19, 2024)3401034
16-30376692-A-G not specified Uncertain significance (Jul 12, 2022)3159310
16-30377806-T-TGTGGGCGGCCTTCCCCCCCGAC not specified Uncertain significance (Jul 11, 2024)3338931
16-30377821-C-A Uncertain significance (-)91978
16-30377824-C-A not specified Uncertain significance (Jun 26, 2024)3401032
16-30377824-C-T not specified Uncertain significance (May 23, 2023)2550124
16-30377859-T-C Distal arthrogryposis • Arthrogryposis, distal, type 1C Pathogenic/Likely pathogenic (Apr 13, 2022)916686
16-30377860-G-T Distal arthrogryposis • Arthrogryposis, distal, type 1C Pathogenic/Likely pathogenic (Apr 13, 2022)916685
16-30377877-G-A Distal arthrogryposis • Arthrogryposis, distal, type 1C Pathogenic/Likely pathogenic (Nov 30, 2020)916687

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MYL11protein_codingprotein_codingENST00000322861 77058
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.7600.2381257260101257360.0000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.650881070.8230.000005891143
Missense in Polyphen2445.5990.52633487
Synonymous0.6373742.30.8750.00000266293
Loss of Function2.4819.070.1103.82e-7117

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006160.0000615
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.00004620.0000462
European (Non-Finnish)0.00006170.0000615
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

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

pHI
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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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