MYO1E

Chr 15

myosin IE

Also known as: FSGS6, HuncM-IC, MYO1C

NCBI Gene: 4643 ENSG00000157483 UniProt: Q12965

This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFocal segmental glomerulosclerosis 6

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.44LOEUF

pLI 0.000

Z-score 5.32

OE 0.31 (0.22–0.44)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.17Z-score

OE missense 0.98 (0.92–1.05)

600 obs / 611.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.31 (0.22–0.44)

0≤0.351.4

Missense OE?0.98 (0.92–1.05)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 21 / 68.5Missense obs/exp: 600 / 611.8Syn Z: -1.61

Background carrier burden — how many people carry a rare variant somewhere in MYO1E?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 57

1,511 rare PASS variants

Rare truncating (LoF)

1 in 860

154 rare PASS variants

Rare synonymous (reference)

1 in 64

653 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MYO1E. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 66	1 in 810
South Asian	~43k	1 in 44	1 in 310
Remaining (unassigned)	~30k	1 in 47	1 in 2,700
European (Finnish)	~27k	1 in 120	1 in 1,500
Admixed American	~22k	1 in 35	1 in 1,100
African / African American	~21k	1 in 34	1 in 810
East Asian	~20k	1 in 49	1 in 2,000
Ashkenazi Jewish	~13k	1 in 99	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 45	≈ 1 in 700

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.