Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
DSG2 (desmoglein 2)
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Unique variants in the DSG2 gene
The variants shown are described using the NM_001943.3 transcript reference sequence.
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.
Effect
: 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.
Reported
: The number of times this variant has been reported in the database.
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
Type
: Type of variant at DNA level; note that the variant type can also be derived from the variant description (for all levels).
All options:
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
ClassClinical
: ClassClinical
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
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'
!=""
Text
!=""
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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74 entries on 1 page. Showing entries 1 - 74.
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How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
01
c.3G>C
-
P.Met1Ile
This change alters the translation initiation codon ATG to ATC (3G.C) and leads to a substi- tut
-
GenBank
DSG2_00021
-
3G>C
-
Qi Ming
./.
1
01
c.44T>A
-
p.Leu15Gln
-
-
GenBank
DSG2_00028
-
-
-
Qi Ming
./.
1
02
c.81+86G>A
-
-
-
-
GenBank
DSG2_00049
-
c.124 + 86G > A
-
Qi Ming
./.
1
03
c.136C>T
-
p.Arg46Trp
-
-
GenBank
DSG2_00052
-
-
-
Qi Ming
./.
4
03
c.137G>A
-
P.Arg46Gln
abolish furin cleavage of pro-desmoglein-2, thereby disrupting production ofmature, functional prote,
1 more item
-
GenBank
DSG2_00015
-
134G>A, -
-
Qi Ming
./.
4
03
c.146G>A
-
P.Arg49His
abolish furin cleavage of pro-desmoglein-2, thereby disrupting production ofmature, functional prote,
1 more item
-
GenBank
DSG2_00016
-
c.143G>A, -
-
Qi Ming
./.
4
03
c.166G>A
-
p.Val56Met
-,
1 more item
-
GenBank
DSG2_00022
-
165G>A, -, c.209G>A
-
Qi Ming
./.
1
03
c.167T>A
-
p.Val56Glu
A novel mutation in DSG2, V56M, was detected in an individual carrying the 2146-1GC mutation in
-
GenBank
DSG2_00073
-
-
-
Qi Ming
./.
1
04
c.260A>G
-
p.Tyr87Cys
-
-
GenBank
DSG2_00008
-
-
-
Qi Ming
./.
1
04
c.266A>G
-
p.Tyr89Cys
-
-
GenBank
DSG2_00076
NA
-
-
Qi Ming
./.
2
04
c.298G>C
-
p.Gly100Arg
-, missense mutations
-
GenBank
DSG2_00005
-
-
-
Qi Ming
./.
2
05
c.437G>T
-
p.Arg146Leu
-
-
GenBank
DSG2_00058
NA
-
-
Qi Ming
./.
1
05
c.445G>T
-
p.Val149Phe
-
-
GenBank
DSG2_00029
-
-
-
Qi Ming
./.
1
05
c.462C>A
-
p.Asp154Glu
In particular, a C!A transversion in exon 5 resulting in the substitution of an aspartic acid wi
-
GenBank
DSG2_00023
-
462C>A
-
Qi Ming
./.
2
05
c.473T>G
-
p.Val158Gly
-,
1 more item
-
GenBank
DSG2_00024
-
473T>G, c.516T > G
-
Qi Ming
./.
1
05
c.523+2T>C
-
-
-
-
GenBank
DSG2_00053
-
-
-
Qi Ming
./.
1
06
c.560A>G
-
p.Asp187Gly
-
-
GenBank
DSG2_00061
-
-
-
Qi Ming
./.
1
06
c.614C>T
-
p.Pro205Leu
-
-
GenBank
DSG2_00030
-
-
-
Qi Ming
./.
1
06
c.690+1G>A
-
p.=
-
-
GenBank
DSG2_00054
-
-
-
Qi Ming
./.
1
07
c.792T>A
-
p.Asp264Glu
-
-
GenBank
DSG2_00059
-
-
-
Qi Ming
./.
1
07
c.797A>G
-
p.Asn266Ser
MISSENSE MUTATION
-
GenBank
DSG2_00009
-
-
-
Qi Ming
./.
1
07
c.806T>C
-
p.Ile269Thr
-
-
GenBank
DSG2_00060
-
-
-
Qi Ming
./.
1
07
c.828+16C>A
-
-
-
-
GenBank
DSG2_00044
-
c.871 + 16C > A
-
Qi Ming
./.
1
08
c.829_836del
-
p.Leu277AspfsX3
-
-
GenBank
DSG2_00051
-
c.829-1_835del
-
Qi Ming
./.
1
08
c.829_840delCTTGAAGGGATG
-
p.Leu277_Met280del
-
-
GenBank
DSG2_00025
-
829_840delCTTGAAGGGATG
-
Qi Ming
./.
2
08
c.861C>T
-
p.Asn287Asn
-
-
GenBank
DSG2_00046
-
c.904C > T, -
-
Qi Ming
./.
2
08
c.877A>G
-
p.Ile293Val
-
-
GenBank
DSG2_00045
G=0.043/54
c.920A > G, -
-
Qi Ming
./.
1
08
c.880A>G
-
p.Lys294Glu
MISSENSE MUTATION
-
GenBank
DSG2_00010
-
.877A>G
-
Qi Ming
./.
1
08
c.882dupA
-
p.Val295SerfsX6
-
-
GenBank
DSG2_00072
-
c.882_883insA
-
Qi Ming
./.
1
08
c.889G>A
-
p.Asp297Asn
-
-
GenBank
DSG2_00031
-
-
-
Qi Ming
./.
2
08
c.918G>A
-
p.Trp306X
-
-
GenBank
DSG2_00017
-
915G>A, -
-
Qi Ming
./.
1
08
c.961T>A
-
p.Phe321Ile
-
-
GenBank
DSG2_00062
-
-
-
Qi Ming
./.
1
08
c.977A>T
-
p.Asp326Val
-
-
GenBank
DSG2_00056
-
-
-
Qi Ming
./.
1
08
c.988A>G
-
p.Asn330Asp
-
-
GenBank
DSG2_00063
-
-
-
Qi Ming
./.
1
08
c.991G>A
-
p.Glu331Lys
-
-
GenBank
DSG2_00020
-
-
-
Qi Ming
./.
3
08
c.1003A>G
-
p.Thr335Ala
one missense mutation (DSG2 p.T335A, family J) affecting a highly conserved residue, -
-
GenBank
DSG2_00034
-
-
-
Qi Ming
./.
1
09
c.1051A>G
-
p.Ser351Gly
-
-
GenBank
DSG2_00077
NA
-
-
Qi Ming
./.
2
09
c.1174G>A
-
p.Val392Ile
-
-
GenBank
DSG2_00001
-
1174G>A, -
-
Qi Ming
./.
1
09
c.1252_1253insATGA
-
p.Glu418AspfsX18
The 4-bp insertion in exon 9 (1253_1257insATGA)causes the addition of an amino acid residue before a
-
GenBank
DSG2_00006
-
1253_1257insATGA
-
Qi Ming
./.
1
10
c.1423+1G>T
-
-
1 more item
-
GenBank
DSG2_00064
-
-
-
Qi Ming
./.
3
11
c.1520G>A
-
p.Cys507Try, p.Cys507Tyr
-
-
GenBank
DSG2_00018
-
1517G-A, -
-
Qi Ming
./.
1
11
c.1543G>A
-
p.Val515Ile
-
-
GenBank
DSG2_00078
A=0.020/15
-
-
Qi Ming
./.
1
11
c.1592T>G
-
p.Phe531Cys
-
-
GenBank
DSG2_00065
-
-
-
Qi Ming
./.
1
12
c.1669C>T
-
p.Gln557X
-
-
GenBank
DSG2_00074
-
-
-
Qi Ming
./.
1
12
c.1672C>T
-
p.Gln558X
NONSENSE MUTATION
-
GenBank
DSG2_00011
-
-
-
Qi Ming
./.
1
12
c.1773_1774del
-
p.Cys591X
-
-
GenBank
DSG2_00026
-
1773_1774delTG
-
Qi Ming
./.
1
13
c.1919_1932del
-
p.Gly640AspfsX15
-
-
GenBank
DSG2_00057
-
-
-
Qi Ming
./.
1
14
c.2036delG
-
p.Gly679AlafsX3
The single base pair deletion in exon 14 (2036delG) results in a frameshift mutation that would le
-
GenBank
DSG2_00007
-
-
-
Qi Ming
./.
1
14
c.2110A>G
-
p.Ile704Val
-
-
GenBank
DSG2_00079
NA
-
-
Qi Ming
./.
5
14
c.2137G>A
-
p.Glu713Lys
-,
1 more item
-
GenBank
DSG2_00004
A=0.033/42
-
-
Qi Ming
./.
3
14
c.2318G>A
-
p.Arg773Lys
-
-
GenBank
DSG2_00040
A=0.266/334
-
-
Qi Ming
./.
1
15
c.2368C>T
-
p.His790Tyr
-
-
GenBank
DSG2_00080
T=0.011/4
-
-
Qi Ming
./.
2
15
c.2434G>T
-
p.Gly812Cys
-
-
GenBank
DSG2_00019
-
2431G-T, -
-
Qi Ming
./.
2
15
c.2505A>G
-
p.Thr835Thr
-
-
GenBank
DSG2_00041
-
-
-
Qi Ming
./.
1
15
c.2587A>C
-
p.Met863Leu
-
-
GenBank
DSG2_00081
C=0.020/7
-
-
Qi Ming
./.
1
15
c.2647T>C
-
p.Ser883Pro
-
-
GenBank
DSG2_00082
C=0.006/5
-
-
Qi Ming
./.
1
15
c.2683C>A
-
p.Gln895Lys
-
-
GenBank
DSG2_00083
NA
-
-
Qi Ming
./.
1
15
c.2708C>T
-
p.Thr903Ile
-
-
GenBank
DSG2_00084
T=0.014/5
-
-
Qi Ming
./.
3
15
c.2759T>G
-
p.Val920Gly
-
-
GenBank
DSG2_00027
NA
2759T>G, -
-
Qi Ming
./.
1
15
c.2780C>T
-
p.Pro927Leu
-
-
GenBank
DSG2_00085
NA
-
-
Qi Ming
./.
1
15
c.2886T>G
-
p.Ile962Met
-
-
GenBank
DSG2_00086
G=0.003/4
-
-
Qi Ming
./.
1
15
c.2959G>T
-
p.Val987Phe
-
-
GenBank
DSG2_00087
NA
-
-
Qi Ming
./.
1
15
c.3059_3062del
-
p.Glu1020AlafsX18
-
-
GenBank
DSG2_00035
-
-
-
Qi Ming
./.
1
15
c.3082G>A
-
p.Gly1028Ser
-
-
GenBank
DSG2_00088
NA
-
-
Qi Ming
./.
1
15
c.3175T>A
-
p.Ser1059Thr
His relatives were not available for evaluation, however, and a racial poly- morphism cannot be
-
GenBank
DSG2_00043
-
3175T>A
-
Qi Ming
./.
1
15
c.3199A>G
-
p.Asn1067Asp
-
-
GenBank
DSG2_00032
-
-
-
Qi Ming
./.
1
15
c.3209C>T
-
p.Thr1070Met
-
-
GenBank
DSG2_00089
NA
-
-
Qi Ming
./.
1
15
c.3247G>A
-
p.Gly1083Ser
-
-
GenBank
DSG2_00033
-
-
-
Qi Ming
./.
1
15
c.3281G>T
-
p.Gly1094Val
-
-
GenBank
DSG2_00090
NA
-
-
Qi Ming
./.
1
15
c.3283C>A
-
p.His1095Asn
-
-
GenBank
DSG2_00091
NA
-
-
Qi Ming
./.
1
15
c.3293C>T
-
p.Ser1098Phe
-
-
GenBank
DSG2_00092
NA
-
-
Qi Ming
./.
1
15
c.3295A>G
-
p.Thr1099Ala
-
-
GenBank
DSG2_00093
G=0.012/4
-
-
Qi Ming
./.
1
15
c.3314C>T
-
p.Thr1105Ile
-
-
GenBank
DSG2_00094
NA
-
-
Qi Ming
./.
2
15
c.3321T>C
-
p.Val1107Val
-
-
GenBank
DSG2_00042
-
-
-
Qi Ming
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