NDDVD - Neurodegenerative Diseases Variation Database
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Transcript #00000126 (NM_004562.2, PARK2 gene)
Transcript name
transcript variant 1
Gene name
PARK2
(parkin RBR E3 ubiquitin protein ligase)
Chromosome
6
Transcript - NCBI ID
NM_004562.2
Transcript - Ensembl ID
-
Protein - NCBI ID
NP_004553.2
Protein - Ensembl ID
-
Protein - Uniprot ID
-
Remarks
-
Variants
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Affects function
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Variant/VariO/DNA
: VariO of DNA
Variant/VariO/protein
: VariO of protein
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
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Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
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!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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153 entries on 2 pages. Showing entries 1 - 100.
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Affects function
Exon
DNA change (cDNA)
RNA change
Protein
Variant/VariO/DNA
Variant/VariO/protein
./.
1
c.-53C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
1
c.-44C>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
./.
1
c.-39G>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
./.
1
c.-21G>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
./.
1
c.-6G>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
./.
1
c.1A>C
r.?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
./.
1i
c.7+1G>A
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
./.
2
c.29G>A
r.(?)
p.(Ser10Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
2
c.34G>C
r.(?)
p.(Gly12Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
2
c.43G>A
r.(?)
p.(Val15Met)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
2
c.48G>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
./.
2
c.52G>A
r.(?)
p.(Asp18Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
2
c.92C>A
r.(?)
p.(Ala31Asp)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
2
c.97C>T
r.(?)
p.(Arg33*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
./.
2
c.98G>A
r.(?)
p.(Arg33Gln)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
2
c.101A>G
r.(?)
p.(Gln34Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
2
c.101delA
r.(?)
p.(Gln34Argfs*10)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
./.
2
c.101_102delAG
r.(?)
p.(Gln34Argfs*5)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
./.
2
c.110C>T
r.(?)
p.(Pro37Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
2
c.111G>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
./.
2
c.118C>T
r.(?)
p.(Gln40*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
./.
2
c.124C>T
r.(?)
p.(Arg42Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
2
c.125G>A
r.(?)
p.(Arg42His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
2
c.125G>C
r.(?)
p.(Arg42Pro)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
2
c.136G>A
r.(?)
p.(Ala46Thr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
2
c.156_157insT
r.(?)
p.(Asp53*)
VariO:0142 DNA insertion
VariO:0015 protein truncation
./.
2
c.160T>C
r.(?)
p.(Trp54Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
2
c.167T>A
r.(?)
p.(Val56Glu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
2i
c.171+10C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
2i
c.171+25T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
2i
c.171+25T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
2i
c.171+25T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
3
c.220_221insGT
r.(?)
p.(Trp74Cysfs*8)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
./.
3
c.235G>T
r.(?)
p.(Glu79*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
./.
3
c.245C>A
r.(?)
p.(Ala82Glu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
3
c.247A>G
r.(?)
p.(Thr83Ala)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
3
c.300G>T
r.(?)
p.(Gln100His)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
3
c.310C>T
r.(?)
p.(Arg104Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
3
c.337_376del40
r.(?)
p.(Pro113Thrfs*51)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
./.
3
c.372C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
3
c.397_399delCCA
r.(?)
p.(Pro133del)
VariO:0141 DNA deletion
VariO:0016 sequence retaining amino acid deletion
./.
3
c.428A>G
r.(?)
p.(Tyr143Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
4
c.434G>A
r.(?)
p.(Ser145Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
4
c.458C>G
r.(?)
p.(Pro153Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
4
c.483A>T
r.(?)
p.(Lys161Asn)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
4
c.497G>A
r.(?)
p.(Cys166Tyr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
4
c.500G>A
r.(?)
p.(Ser167Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
4
c.500G>A
r.(?)
p.(Ser167Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
4
c.500G>A
r.(?)
p.(Ser167Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
4
c.511C>T
r.(?)
p.(Gln171*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
./.
4
c.518C>T
r.(?)
p.(Thr173Met)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
4
c.522C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
4
c.531C>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
./.
4i
c.534+10T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
4i
c.535-9T>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
./.
5
c.536delG
r.(?)
p.(Gly179Valfs*9)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
./.
5
c.574A>C
r.(?)
p.(Met192Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
5
c.574A>G
r.(?)
p.(Met192Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
5
c.600C>A
r.(?)
p.(His200Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
5i
c.618+2T>A
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
./.
6
c.633A>T
r.(?)
p.(Lys211Asn)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
6
c.634delT
r.(?)
p.(Cys212Valfs*13)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
./.
6
c.634T>G
r.(?)
p.(Cys212Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
6
c.635G>A
r.(?)
p.(Cys212Tyr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
6
c.635G>A
r.(?)
p.(Cys212Tyr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
6
c.645C>A
r.(?)
p.(His215Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
6
c.688G>A
r.(?)
p.(Ala230Thr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
6
c.701G>A
r.(?)
p.(Arg234Gln)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
6
c.712delT
r.(?)
p.(Cys238Alafs*21)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
./.
6
c.714C>G
r.(?)
p.(Cys238Trp)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
6
c.714C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
6
c.719C>G
r.(?)
p.(Thr240Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
6
c.719C>G
r.(?)
p.(Thr240Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
6
c.719C>T
r.(?)
p.(Thr240Met)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
6
c.727G>A
r.(?)
p.(Asp243Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
6
c.730G>A
r.(?)
p.(Val244Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
7
c.758G>A
r.(?)
p.(Cys253Tyr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
7
c.758G>T
r.(?)
p.(Cys253Phe)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
7
c.766C>T
r.(?)
p.(Arg256Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
7
c.772G>A
r.(?)
p.(Val258Met)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
7
c.783A>G
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
./.
7
c.794A>G
r.(?)
p.(His265Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
7
c.798_799insA
r.(?)
p.(Tyr267Ilefs*8)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
./.
7
c.799T>C
r.(?)
p.(Tyr267His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
7
c.804T>A
r.(?)
p.(Cys268*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
./.
7
c.813A>T
r.(?)
p.(Arg271Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
7
c.814C>A
r.(?)
p.(Leu272Ile)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
7
c.816C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
7
c.818A>G
r.(?)
p.(Asn273Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
7
c.823C>T
r.(?)
p.(Arg275Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
7
c.823C>T
r.(?)
p.(Arg275Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
7
c.823C>T
r.(?)
p.(Arg275Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
7
c.837C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
./.
7
c.838G>A
r.(?)
p.(Asp280Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
./.
7
c.848T>C
r.(?)
p.(Leu283Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
./.
7
c.850G>C
r.(?)
p.(Gly284Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
7
c.850G>C
r.(?)
p.(Gly284Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
7
c.865T>G
r.(?)
p.(Cys289Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
./.
7i
c.872-3C>G
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
./.
7i
c.872-1G>C
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
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