Q136E (p.Gln136Glu) variant of SMN1 (Survival motor neuron protein)
Q136E (p.Gln136Glu) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Werdnig-Hoffmann disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature.
Q136E (p.Gln136Glu) variant details
- p.Gln136Glu
- rs104893934
- ClinGen CA254698
- ClinVar RCV000009758
- UniProt VAR 034808
- Pathogenic
- Werdnig-Hoffmann disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.33
- MetaLR 0.74
- MetaSVM 0.45
- SIFT 0.07
- MutPred 0.64
- ClinVar: Pathogenic (Werdnig-Hoffmann disease)
- EBI: Pathogenic (in SMA1)
- UniProt: Pathogenic (in SMA1)
- Cited in: Detection of novel mutations in the SMN Tudor domain in type I SMA patients. (PMID 15249625)
- Cited in: HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. (PMID 21088113)