LOVD - Variant listings for PINK1

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Path. Hide Path. column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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Disease Hide Disease column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Remarks Hide Remarks column Descending
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# Reported Hide # Reported column Descending
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Ethnic origin Hide Ethnic origin column Descending
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Geographic origin Hide Geographic origin column Descending
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Gender Hide Gender column Descending
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Age at onset Hide Age at onset column Descending
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Family history Hide Family history column Descending
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Symptom Bradykinesia Hide Symptom Bradykinesia column Descending
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Symptom Resting Tremor Hide Symptom Resting Tremor column Descending
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Symptom Rigidity Hide Symptom Rigidity column Descending
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Symptom Postural Instability Hide Symptom Postural Instability column Descending
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Symptom Asymmetric onset Hide Symptom Asymmetric onset column Descending
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L-Dopa responsive Hide L-Dopa responsive column Descending
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Symptom Dystonia Hide Symptom Dystonia column Descending
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Symptom REM sleep disorder Hide Symptom REM sleep disorder column Descending
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Psychiatric abnormalities Hide Psychiatric abnormalities column Descending
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Symptom Dementia Hide Symptom Dementia column Descending
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Symptom Loss of smell/taste Hide Symptom Loss of smell/taste column Descending
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Symptom Autonomic dysfunction Hide Symptom Autonomic dysfunction column Descending
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Atypical clinical features Hide Atypical clinical features column Descending
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Pathology Hide Pathology column Descending
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+/+ 1 c.70_101del - p.Lys24GlyfsX30 - PINK1_00001 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.203_204GC>CT - p.Arg68Pro - PINK1_00002 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.275G>T - p.Cys92Phe - PINK1_00003 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.292C>T - p.R98W - PINK1_00043 EOPD Marongiu et al 2008 DNA SEQ starts in lower limb, gait impairment, urinary urgancy,slower progression - - - - - - - - - - - - - - - - - - - -
?/? 1 c.332T>G - p.I111S - PINK1_00044 EOPD Marongiu et al 2008 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.373T>G - p.Cys125Gly - PINK1_00004 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.440G>A - p.Arg147His - PINK1_00005 EOPD Healy et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.502G>C - p.Ala168Pro - PINK1_00006 EOPD Bonifati et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.502G>C - p.Ala168Pro - PINK1_00006 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.558G>C - p.K186N 2 PINK1_00047 EOPD Djarmati et al 2006 DNA SEQ slow progr, present motor fluctuation - - - - - - - - - - - - - - - - - - - -
?/? 2 c.577A>G - p.G193R - PINK1_00046 EOPD Weng et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.587C>T - p.Pro196Leu - PINK1_00007 EOPD Bonifati et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.626C>T - p.P209L 1 PINK1_00048 EOPD Djarmati et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.650C>A - p.A217D 8 PINK1_00045 EOPD Leutenegger et al 2006 DNA SEQ from Sudan, juvenile onset AAO:9-17, clinically varying from dopa responsive dystonia to EOPD - - - - - - - - - - - - - - - - - - - -
?/? 3 c.692A>G - p.Glu231Gly - PINK1_00008 EOPD Bonifati et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.715C>T - p.Gln239X - PINK1_00009 EOPD Hatano et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.718G>A - p.Glu240Lys - PINK1_00010 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.718G>A - p.Glu240Lys - PINK1_00010 EOPD Rogaeva et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.736C>T - p.Arg246X - PINK1_00011 EOPD Hatano et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.736C>T - p.Arg246X - PINK1_00011 EOPD Tan et al. 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.774C>A - p.Tyr258X - PINK1_00012 EOPD Tan et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.802C>G - p.Leu268Val - PINK1_00013 EOPD Tan et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.813C>A - p.His271Gln - PINK1_00014 EOPD Hatano et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.836G>A - p.Arg279His - PINK1_00015 EOPD Klein et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.838G>A - p.Ala280Thr - PINK1_00016 EOPD Tan et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.887C>T - p.Pro296Leu - PINK1_00017 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.889delG - p.D297fsX318 2 PINK1_00049 EOPD Savettieri et al 2008 DNA SEQ cognitive decline - - - - - - - - - - - - - - - - - - - -
?/? 4 c.926G>A - p.Gly309Asp - PINK1_00018 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.938C>T - p.T313M 2 PINK1_00051 EOPD Christi et al 2006 DNA SEQ 13 heterozygous was not affected - - - - - - - - - - - - - - - - - - - -
?/? 4 c.949G>A - p.V317I - PINK1_00050 EOPD Tan et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.952A>T - p.Met318Leu - PINK1_00019 EOPD Bonifati et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.965C>T - p.P322L - PINK1_00052 EOPD Marongiu et al 2008 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.1015G>A - p.Ala339Thr - PINK1_00020 EOPD Bonifati et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.1018G>A - p.A340T 2 PINK1_00053 EOPD Weng et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.1040T>C - p.Leu347Pro - PINK1_00021 EOPD Hatano et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.1040T>C - p.Leu347Pro - PINK1_00021 EOPD Rogaeva et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.1106T>C - p.Leu369Pro - PINK1_00022 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 6-8 c.1124-1535_(*881)del - - - PINK1_00042 EOPD Li et al 2005 DNA gene dosage - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1147G>A - p.A383T - PINK1_00055 EOPD Tan et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1157G>C - p.Gly386Ala - PINK1_00023 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1163T>C - p.Cys388Arg - PINK1_00024 EOPD Li et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1184G>T - p.G395V - PINK1_00054 EOPD Marongiu et al 2008 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1196C>T - p.Pro399Leu - PINK1_00025 EOPD Tang et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1196C>T
    + PARK7 (1)
- p.Pro399Leu - PINK1_00025 PD Tang et al 2006 DNA SEQ Chinese family with two affected siblings, combined with P399L mutation in PINK1 2 - - - - - - - - - - - - - - - - - - -
?/? 6 c.1220G>A - p.Arg407Gln - PINK1_00026 EOPD Fung et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1226G>T - p.Gly409Val - PINK1_00027 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1231G>A - p.G411S - PINK1_00056 EOPD Mellick et al 2008 DNA SEQ 1 het - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1231G>A - p.G411S - PINK1_00056 EOPD Tan et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1231G>A - p.G411S - PINK1_00056 EOPD Zadikoff et al DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1231G>A - p.G411S - PINK1_00056 EOPD Toft et al 2007 DNA SEQ AAO:43;50;excellent ldopa respons but early dyskinesias - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1250G>A - p.Glu417Gly - PINK1_00028 EOPD Hatano et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.1273C>T - p.Pro425Ser - PINK1_00029 EOPD Bonifati et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.1291T>C - p.Y431H - PINK1_00057 EOPD Tan et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1311G>A - p.Trp437X - PINK1_00030 EOPD Bonifati et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1311G>A - p.Trp437X - PINK1_00030 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1311G>A - p.W437X - PINK1_00059 EOPD Marongiu et al 2008 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.1325T>C - p.Ile442Thr - PINK1_00031 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.1352A>G - p.N451S - PINK1_00058 EOPD Tan et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1366C>T - p.Gln456X - PINK1_00032 EOPD {PMID16009891Bonifati et al 2005} DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1366C>T - p.Gln456X - PINK1_00032 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.1391G>A - p.Arg464His - PINK1_00033 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.1426G>A - p.Glu476Lys - PINK1_00034 EOPD Bonifati et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.1426G>A - p.Glu476Lys - PINK1_00034 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.1466T>C - p.Leu489Pro - PINK1_00035 EOPD Rogaeva et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1474C>T - p.Arg492X - PINK1_00036 EOPD Hatano et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1474C>T - p.Arg492X - PINK1_00036 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 8 c.1493C>T - p.P498L 1 PINK1_00063 EOPD Toft et al 2007 DNA SEQ 1 case heteroz, AAO:58, slow progression, - - - - - - - - - - - - - - - - - - - -
?/? 8 c.1502G>C - p.R501P - PINK1_00060 EOPD Tan et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1557delG - p.Leu519LeufsX4 - PINK1_00037 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 8 c.1562A>C - p.N521T 3 PINK1_00062 EOPD Weng et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 8 c.1573G>A - p.Asp525Asn - PINK1_00039 EOPD Valente et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1573_1574insTTAG - p.Asp525ValfsX38 - PINK1_00038 EOPD Bonifati et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1573_1574insTTAG - p.Asp525ValfsX38 - PINK1_00038 EOPD Rohe et al 2004 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 8 c.1602_1603insCAA - p.534_535insGln - PINK1_00040 EOPD Klein et al 2005 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1647_1650del - p.Cys549TrpfsX5 - PINK1_00041 EOPD Ibanez et al 2006 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
?/? 8 c.1723T>C - p.C575R - PINK1_00061 EOPD Tan et al 2007 DNA SEQ - - - - - - - - - - - - - - - - - - - - -
+/+ N/A g.15445_15467del23 - - - PINK1_00064 EOPD Marongiu et al 2008 DNA SEQ early dyskinesias - - - - - - - - - - - - - - - - - - - -
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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 [2000], 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