KIF1A (Kinesin-like protein KIF1A) variants and mutations

KIF1A (also known as Kinesin-like protein KIF1A) is a human protein-coding gene encoding a kinesin-like protein. It transports synaptic vesicle precursors and other cargo along axonal microtubules toward nerve terminals. Pathogenic variants cause a broad KIF1A-associated neurological disorder spectrum including hereditary sensory neuropathy, spastic paraplegia, optic atrophy, ataxia, and developmental impairment. This analysis covers 560 KIF1A variants and mutations. Of these, 62% have computational variant effect predictions. Disease context includes intellectual disability, autosomal dominant 9, hereditary spastic paraplegia 30, and Autosomal recessive spastic paraplegia type 30. Example KIF1A variants include M1V, G3R, and V6L.

Variant analysis overview

Gene: KIF1A
Protein: Kinesin-like protein KIF1A
UniProt accession: Q12756
Organism: Homo sapiens
Variants analyzed: 560
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 471 unspecified-consequence records; 1 stop retained variant; 1 stop lost; 63 missense variants; 16 synonymous variants; 1 frameshift variants; 1 splice-region variants; 4 stop-gained variants; 2 substitution
Prediction scores: 350 variants have prediction scores (62% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: intellectual disability, autosomal dominant 9, hereditary spastic paraplegia 30, Autosomal recessive spastic paraplegia type 30, neuropathy, hereditary sensory, type 2C, spastic paraplegia 30A, autosomal dominant, hereditary sensory and autonomic neuropathy type 2, spastic paraplegia 30B, autosomal recessive, neurodegenerative disease, hereditary spastic paraplegia, hereditary disease, KIF1A related neurological disorder, Alzheimer disease.

Protein structure and variant hotspots

Protein features: 3 domains; 6 binding sites; 14 post-translational modification sites.
Structural context: 229 variants have structural context.
PTM context: 6 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable KIF1A variants

Examples include M1V, G3R, V6L, V8A, R11Q, R11W, V12I, R13C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

KIF1A analysis run — KIF1A (560 variants) — completed 2026-08-20