RAPSN Chromosome 11
Receptor associated protein of the synapse
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What This Gene Does
This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000165917
Associated Conditions (12)
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 2
Arthrogryposis multiplex congenita
Global developmental delay
RAPSN-related disorder
Congenital myasthenic syndrome
Inborn genetic diseases
Hydrops fetalis
Myopathy
Congenital myasthenic syndrome 4C
Abnormality of the musculature
Key Variants
RS1005550058
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 2
Health Risk
RS1040279711
Conflicting classifications of pathogenicity
Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 2
Health Risk
RS104894293
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 11, Global developmental delay, Fetal akinesia deformation sequence 1
Health Risk
RS1377574572
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome
Health Risk
RS139398367
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Congenital myasthenic syndrome
Health Risk
RS140996453
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome
Health Risk
RS142635726
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 2
Health Risk
RS146237774
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Congenital myasthenic syndrome
Health Risk
RS149683345
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome
Health Risk
RS150756111
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Congenital myasthenic syndrome
Health Risk
RS200550567
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, RAPSN-related disorder
Health Risk
RS201124957
Conflicting classifications of pathogenicity
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, RAPSN-related disorder
Health Risk
All Variants (116)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1595903667 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Congenital myasthenic syndrome |
| RS2153308170 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome, Fetal akinesia deformation sequence 1 |
| RS2153309050 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 2 |
| RS2153311231 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 2 |
| RS2153311290 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 2 |
| RS2496102548 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 2 |
| RS2496131085 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1 |
| RS368695664 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 2 |
| RS559933584 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 2 |
| RS560525099 | Health Risk | Pathogenic/Likely pathogenic | RAPSN-related disorder, Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome 11 |
| RS759488854 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 2 |
| RS760999895 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 2 |
| RS761584017 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome |
| RS786200904 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1, RAPSN-related disorder |
| RS786200905 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 11, Congenital myasthenic syndrome, Fetal akinesia deformation sequence 1 |
| RS886037842 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome, Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1 |