MYOT

Chr 5q31.2

myotilin

MANE:: ENST00000239926.9

OMIM: 604103 ↗NCBI: 9499 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYOT · Q9UBF9

v62025-08-01

Predicted Aligned Error matrix for MYOT — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.8/ 100

Low

498 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)12%
Low(50–70)10%
Very low(< 50)44%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

myofibrillar myopathy 3
0.78
Distal myotilinopathy
0.71
distal myopathy
0.35
Urinary bladder sphincter dysfunction
0.34
Fatty replacement of skeletal muscle
0.34
Lower limb pain
0.34
Distal amyotrophy
0.34
Distal lower limb muscle weakness
0.34
Muscle fiber inclusion bodies
0.34
EMG: myopathic abnormalities
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Myotilin

Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells