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Legend: [ PINK1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE , Hum.Mut. 15:7-12); for a summary see Nomenclature.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Frequency: Frequency if variant is non pathogenic. PINK1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Ethnic origin: Ethnic origin Geographic origin: Geographic origin of patient Gender: Patient gender Age at onset: onset of PD symptoms Family history: Family history, how many generations?, number of affected individuals Symptom Bradykinesia: Gelb criteria Bradykinesia Symptom Resting Tremor: Gelb criteria Resting Tremor Symptom Rigidity: Gelb criteria Rigidity Symptom Postural Instability: Gelb criteria Postural Instability Symptom Asymmetric onset: Gelb criteria Asymmetric onset L-Dopa responsive: Gelb criteria L-Dopa responsive Symptom Dystonia: Symptom Dystonia present/absent Symptom REM sleep disorder: Symptom REM sleep disorder Psychiatric abnormalities: Psychiatric abnormalities: depression, anxiety, hallucinations etc. Symptom Dementia: Symptom Dementia/ cognitive decline Symptom Loss of smell/taste: Symptom Loss of smell/taste Symptom Autonomic dysfunction: Symptom Autonomic dysfunction: hypotonia, urinary incontinence, constipation Atypical clinical features: Atypical clinical features Pathology: Pathology: Lewy bodies