DNAH3

Chr 16

dynein axonemal heavy chain 3

Also known as: DNAHC3-B, DNAHC3B, HDHC8, HEL-36, HSADHC3

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
0.80
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 3.96
OE 0.69 (0.600.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.03Z-score
OE missense 1.00 (0.961.03)
2256 obs / 2260.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.69 (0.600.80)
00.351.4
Missense OE?1.00 (0.961.03)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 132 / 191.1Missense obs/exp: 2256 / 2260.0Syn Z: -2.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DNAH3 · 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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