MYO5B
Chr 18ARmyosin VB
Also known as: DIAR2, MVID1, PFIC10
MYO5B encodes a motor protein that transports vesicles and is required for proper trafficking of proteins to the plasma membrane, including the bile salt export pump ABCB11 in hepatocytes and transferrin receptors in epithelial cells. Autosomal recessive mutations cause microvillous inclusion disease presenting with severe diarrhea and malabsorption in infancy, often accompanied by progressive familial intrahepatic cholestasis. The gene shows low constraint against loss-of-function variants (LOEUF 0.688), consistent with recessive inheritance requiring biallelic mutations for disease manifestation.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 16 | 1 | 10 | 0 | 27 |
Likely Pathogenic | 10 | 7 | 2 | 0 | 19 |
VUS | 0 | 166 | 7 | 2 | 175 |
Likely Benign | 0 | 3 | 101 | 136 | 240 |
Benign | 0 | 0 | 2 | 1 | 3 |
Conflicting | — | 1 | |||
| Total | 26 | 177 | 122 | 139 | 465 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYO5B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools