MYO16

Chr 13

myosin XVI

Also known as: MYAP3, MYR8, Myo16b, NYAP3, PPP1R107

This gene encodes an unconventional myosin that functions as an actin-based motor protein with ATPase activity and may target protein phosphatase 1 during brain development while regulating neuronal morphogenesis. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.27), and variants have been associated with susceptibility to schizophrenia. Inheritance pattern and specific pediatric phenotypes associated with pathogenic variants in this gene are not well established in the current literature.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
9
Pubs (1 yr)
79
P/LP submissions
1%
P/LP missense
0.27
LOEUF· LoF intol.
Mechanism
Clinical SummaryMYO16
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
79 unique Pathogenic / Likely Pathogenic· 310 VUS of 500 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.27LOEUF
pLI 0.999
Z-score 7.20
OE 0.18 (0.120.27)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.03Z-score
OE missense 0.91 (0.860.96)
917 obs / 1008.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.18 (0.120.27)
00.351.4
Missense OE0.91 (0.860.96)
00.61.4
Synonymous OE1.01
01.21.6
LoF obs/exp: 16 / 89.5Missense obs/exp: 917 / 1008.7Syn Z: -0.14

ClinVar Variant Classifications

500 submitted variants in ClinVar

Classification Summary

Pathogenic78
Likely Pathogenic1
VUS310
Likely Benign49
Benign45
Conflicting6
78
Pathogenic
1
Likely Pathogenic
310
VUS
49
Likely Benign
45
Benign
6
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
78
0
78
Likely Pathogenic
0
1
0
0
1
VUS
1
294
15
0
310
Likely Benign
1
21
4
23
49
Benign
0
14
8
23
45
Conflicting
6
Total233010546489

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MYO16 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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