Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
MUT (methylmalonyl CoA mutase)
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Unique variants in the MUT gene
The variants shown are described using the NM_000255.2 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
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
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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313 entries on 4 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
00
c.-198A>T
-
-
-
-
GenBank
MUT_00342
0.479
5' UTR
-
Qi Ming
./.
1
01
c.-40+7A>G
-
-
-
-
GenBank
MUT_00341
0.039
Intron
-
Qi Ming
./.
1
02
c.39-191A>G
-
-
-
-
GenBank
MUT_00340
0.491
Intron
-
Qi Ming
./.
1
07
c.133-185A>G
-
-
-
-
GenBank
MUT_00295
0.345
Intron
-
Qi Ming
./.
1
05
c.1083+525_1083+526insA, c.1083+525_1083+526insT
-
-
-
-
GenBank
MUT_00313
0.500
Intron
-
Qi Ming
./.
1
05
c.1083+534_1083+545insA, c.1083+534_1083+545insT
-
-
-
-
GenBank
MUT_00311
N.D
Intron
-
Qi Ming
./.
1
08
c.1445-224_1445-223insA, c.1445-224_1445-223insT
-
-
-
-
GenBank
MUT_00290
N.D
Intron
-
Qi Ming
./.
1
08
c.1560+14_1560+15insA, c.1560+14_1560+15insT
-
-
-
-
GenBank
MUT_00289
N.D
Intron
-
Qi Ming
./.
1
08
c.1560+15_1560+16insA, c.1560+15_1560+16insT
-
-
-
-
GenBank
MUT_00288
N.D
Intron
-
Qi Ming
./.
1
08
c.1560+20_1560+21insA, c.1560+20_1560+21insT
-
-
-
-
GenBank
MUT_00287
N.D
Intron
-
Qi Ming
./.
1
09
c.1561-553_1561-552insC, c.1561-553_1561-552insG
-
-
-
-
GenBank
MUT_00278
N.D
Intron
-
Qi Ming
./.
1
10
c.1808+56_1808+57insC, c.1808+56_1808+57insG
-
-
-
-
GenBank
MUT_00262
N.D
Intron
-
Qi Ming
./.
1
11
c.1809-395_1809-394insA, c.1809-395_1809-394insC
-
-
-
-
GenBank
MUT_00259
N.D
Intron
-
Qi Ming
./.
1
12
c.1957-1012_1957-1011insC, c.1957-1012_1957-1011insG
-
-
-
-
GenBank
MUT_00243
N.D
Intron
-
Qi Ming
./.
1
04
c.754-79_754-78insC, c.754-79_754-78insG
-
-
-
-
GenBank
MUT_00335
N.D
Intron
-
Qi Ming
./.
1
04
c.911+945_911+946insA, c.911+945_911+946insT
-
-
-
-
GenBank
MUT_00324
N.D
Intron
-
Qi Ming
./.
1
13
c2125-1559C>A
-
-
-
-
GenBank
MUT_00236
N.D
Intron
-
Qi Ming
./.
2
02
c.19C>T
-
p.Gln7X
c.19C>T
-
GenBank
MUT_00109
-
Exon
-
Qi Ming
./.
2
02
c.52C>T
-
p.Gln18X
c.52C>T, c.128C>T
-
GenBank
MUT_00082
-
Exon
-
Qi Ming
./.
1
02
c.68C>G
-
p.Ser23X
c.68C>G
-
GenBank
MUT_00169
-
Exon
-
Qi Ming
./.
4
02
c.91C>T
-
p.Arg31X
c.91C>T
-
GenBank
MUT_00001
-
Exon
-
Qi Ming
./.
1
02
c.146dupA
-
p.Lys9LysfsX35
c.146dupA
-
GenBank
MUT_00123
-
Exon
-
Qi Ming
./.
1
02
c.160A>T
-
p.Lys54X
c.236A>T
-
GenBank
MUT_00197
-
Exon
-
Qi Ming
./.
2
02
c.205A>G
-
p.Ile69Val
c.205A>G
-
GenBank
MUT_00139
-
Exon
-
Qi Ming
./.
3
02
c.257C>T
-
p.Pro86Leu
c.257C>T
-
GenBank
MUT_00035
-
Exon
-
Qi Ming
./.
1
02
c.260G>A
-
p.Gly87Glu
c.260G>A
-
GenBank
MUT_00032
-
Exon
-
Qi Ming
./.
8
02
c.278G>A
-
p.Arg93His
c.278G>A, c.354G>A
-
GenBank
MUT_00002, MUT_00124
-
Exon
-
Qi Ming
./.
4
02
c.280G>A
-
p.Gly94Arg
c.280G>A
-
GenBank
MUT_00035
-
Exon
-
Qi Ming
./.
1
02
c.281G>A
-
p.Gly94Glu
c.357G>A
-
GenBank
MUT_00208
-
Exon
-
Qi Ming
./.
6
02
c.281G>T
-
p.Gly94Val, c.Gly94Val
c.281G>T, c.357G>T
-
GenBank
MUT_00037
-
Exon
-
Qi Ming
./.
1
02
c.284C>G
-
p.Pro95Arg
c.284C>G
-
GenBank
MUT_00003
-
Exon
-
Qi Ming
./.
1
02
c.299A>G
-
p.Tyr100Cys
c.299A>G
-
GenBank
MUT_00155
-
Exon
-
Qi Ming
./.
5
02
c.313T>C
-
p.Trp105Arg
c.313T>C, c.389T>C
-
GenBank
MUT_00004
-
Exon
-
Qi Ming
./.
1
02
c.322C>G
-
p.Arg108Gly
c.322C>G
-
GenBank
MUT_00084
-
Exon
-
Qi Ming
./.
8
02
c.322C>T
-
p.Arg108Cys
c.322C>T
-
GenBank
MUT_00005
-
Exon
-
Qi Ming
./.
10
02
c.323G>A
-
p.Arg108His
c.323G>A, c.399G>A
-
GenBank
MUT_00043
-
Exon
-
Qi Ming
./.
2
02
c.326A>G
-
p.Gln109Arg
c.326A>G
-
GenBank
MUT_00134
-
Exon
-
Qi Ming
./.
3
02
c.349G>T
-
p.Glu117X
c.425G>T
-
GenBank
MUT_00203, MUT_00211
-
Exon
-
Qi Ming
./.
1
02
c.360_361insT
-
p.Lys121X
c.360.361insT
-
GenBank
MUT_00119
-
Exon
-
Qi Ming
./.
1
02
c.385+2T>G
-
-
c.385+2T>G
-
GenBank
MUT_00122
-
Intron
-
Qi Ming
./.
1
02
c.385+2_385+3insTAAGGGT
-
-
c.385+3insTAAGGGT
-
GenBank
MUT_00047
-
Intron
-
Qi Ming
./.
2
02
c.385+5G>A
-
-
c.385+5G>A, IVS2+5G>A
-
GenBank
MUT_00206
-
Intron
-
Qi Ming
./.
1
03
c.386-387C>T
-
-
-
-
GenBank
MUT_00339
N.D
Intron
-
Qi Ming
./.
1
03
c.386-247C>T
-
-
-
-
GenBank
MUT_00338
N.D
Intron
-
Qi Ming
./.
1
03
c.386-41C>T
-
-
-
-
GenBank
MUT_00337
0.039
Intron
-
Qi Ming
./.
1
03
c.404C>A
-
p.Ser135X
c.404C>A
-
GenBank
MUT_00045
-
Exon
-
Qi Ming
./.
1
03
c.410C>T
-
p.Ala137Val
-
-
GenBank
MUT_00160
-
Exon
-
Qi Ming
./.
1
03
c.421delG
-
p.Ala141ArgfsX39
c.497delG
-
GenBank
MUT_00128
-
Exon
-
Qi Ming
./.
1
03
c.424A>G
-
p.Thr142Ala
c.424A>G
-
GenBank
MUT_00171
-
Exon
-
Qi Ming
./.
1
03
c.427C>T
-
p.His143Tyr
c.427C>T
-
GenBank
MUT_00161
-
Exon
-
Qi Ming
./.
2
03
c.433G>A
-
p.Gly145Ser
c.433G>A
-
GenBank
MUT_00070
-
Exon
-
Qi Ming
./.
2
03
c.443C>T
-
p.Ser148Leu
c.443C>T
-
GenBank
MUT_00102
-
Exon
-
Qi Ming
./.
6
03
c.454C>T
-
p.Arg152X
c.454C>T
-
GenBank
MUT_00037
-
Exon
-
Qi Ming
./.
1
03
c.459delT
-
p.Val153ValfsX19
c.459delT,p.Gly158GlufsX22
-
GenBank
MUT_00063
-
Exon
-
Qi Ming
./.
2
03
c.466G>A
-
p.Asp156Asn
c.466G>A, c.541G>A
-
GenBank
MUT_00106
-
Exon
-
Qi Ming
./.
3
03
c.473G>T
-
p.Gly158Val
c.473G>T, c.549G>T
-
GenBank
MUT_00099, MUT_00117
-
Exon
-
Qi Ming
./.
1
03
c.481G>T
-
p.Gly161X
c.481G>T
-
GenBank
MUT_00048
-
Exon
-
Qi Ming
./.
1
03
c.517T>A
-
p.Asp147Glu
c.517T>A
-
GenBank
MUT_00172
-
Exon
-
Qi Ming
./.
3
03
c.521T>C
-
p.Phe174Ser
c.521T>C, c.597C>T
-
GenBank
MUT_00092, MUT_00198
-
Exon
-
Qi Ming
./.
1
03
c.544_545insA
-
p.Met182AsnfsX29
c.620insA
-
GenBank
MUT_00199
-
Exon
-
Qi Ming
./.
1
03
c.554C>T
-
p.Ser185Pro
c.554C>T
-
GenBank
MUT_00168
-
Exon
-
Qi Ming
./.
1
03
c.556A>G
-
p.Met186Val
c.556A>G
-
GenBank
MUT_00085
-
Exon
-
Qi Ming
./.
3
03
c.567T>G
-
p.Asn189Lys
c.567T>G, c.643T>G
-
GenBank
MUT_00086
-
Exon
-
Qi Ming
./.
15
03
c.572C>A
-
p.Arg191Glu, p.Ala191Glu
c.572C>A, c.648C>A
-
GenBank
MUT_00006
-
Exon
-
Qi Ming
./.
1
03
c.590C>A
-
p.Ala197Glu
c.594C>A
-
GenBank
MUT_00179
-
Exon
-
Qi Ming
./.
8
03
c.607G>A
-
p.Gly203Arg
c.607G>A, c.683G>A
-
GenBank
MUT_00007
-
Exon
-
Qi Ming
./.
1
03
c.622delG
-
p.Val208TyrfsX15
c.698delG
-
GenBank
MUT_00130
-
Exon
-
Qi Ming
./.
2
03
c.623_624delTA
-
p.Val208AlafsX2
c.623delTA, c.623.624delTA
-
GenBank
MUT_00131, MUT_00154
-
Exon
-
Qi Ming
./.
3
03
c.636G>A
-
p.Lys212Lys
c.712G>A, c.636A>G
-
GenBank
MUT_00190, MUT_00214
0.492
Exon
-
Qi Ming
./.
4
03
c.643G>A
-
p.Arg215Ser, p.Gly215Ser
c.643G>A
-
GenBank
MUT_00009
-
Exon
-
Qi Ming
./.
2
03
c.643G>T
-
p.Gly215Cys, p.Arg215Cys
c.643G>T
-
GenBank
MUT_00008
-
Exon
-
Qi Ming
./.
5
03
c.654A>C
-
p.Gln218His
c.654A>C, c.730A>C
-
GenBank
MUT_00078
-
Exon
-
Qi Ming
./.
25
03
c.655A>T
-
p.Asn219Tyr
c.655A>T, c.731A>T
-
GenBank
MUT_00051, MUT_00126, MUT_00152, MUT_00191
-
Exon
-
Qi Ming
./.
1
03
c.656delA
-
p.Asn219MetfsX4
c.656delA
-
GenBank
MUT_00065
-
Exon
-
Qi Ming
./.
1
03
c.670G>T
-
p.Glu224X
c.670G>T
-
GenBank
MUT_00058
-
Exon
-
Qi Ming
./.
9
03
c.671_678dupAATTTATG
-
p.Val227AsnfsX16
c.671.678dup
-
GenBank
MUT_00174, MUT_00055
-
Exon
-
Qi Ming
./.
14
03
c.682C>T
-
p.Arg228X
c.682C>T
-
GenBank
MUT_00010
-
Exon
-
Qi Ming
./.
5
03
c.683G>A
-
p.Arg228Gln
c.683G>A, c.759G>A
-
GenBank
MUT_00061
-
Exon
-
Qi Ming
./.
2
03
c.689C>T
-
p.Thr230Ile
c.689C>T, c.765C>T
-
GenBank
MUT_00086
-
Exon
-
Qi Ming
./.
5
03
c.691T>A
-
p.Tyr231Asn
c.691T>A, c.767T>A
-
GenBank
MUT_00098
-
Exon
-
Qi Ming
./.
1
03
c.693_694delCA
-
p.Tyr231TyrfsX13
c.769delCA
-
GenBank
MUT_00204
-
Exon
-
Qi Ming
./.
1
03
c.693_694insA
-
p.Ile232AsnfsX13
c.693.694insA
-
GenBank
MUT_00120
-
Exon
-
Qi Ming
./.
5
03
c.729_730insTT
-
p.Asp244LeufsX39
c.729.730insTT, c.729_730insTT, c.805insTT
-
GenBank
MUT_00165
-
Exon
-
Qi Ming
./.
1
03
c.753+1G>A
-
-
c.753+1G>A
-
GenBank
MUT_00097
-
Intron
-
Qi Ming
./.
3
03
c.753+2T>A
-
-
c.753+2T>A
-
GenBank
MUT_00076
-
Intron
-
Qi Ming
./.
1
03
c.753+508G>A
-
-
-
-
GenBank
MUT_00336
0.077
Intron
-
Qi Ming
./.
1
04
c.754-7T>A
-
-
-
-
GenBank
MUT_00334
0.500
Intron
-
Qi Ming
./.
1
04
c.754-6A>T
-
-
-
-
GenBank
MUT_00333
0.500
Intron
-
Qi Ming
./.
1
04
c.754-1G>A
-
-
c.754-1G>A
-
GenBank
MUT_00164
-
Intron
-
Qi Ming
./.
1
04
c.754-1G>T
-
-
-
-
GenBank
MUT_00332
0.113
Intron
-
Qi Ming
./.
2
04
c.785G>A
-
p.Ser262Asn
c.785G>A
-
GenBank
MUT_00059
-
Exon
-
Qi Ming
./.
1
04
c.793C>T
-
p.His265Tyr
c.791C>T
-
GenBank
MUT_00090
-
Exon
-
Qi Ming
./.
1
04
c.828G>A
-
p.Glu276Glu
-
-
GenBank
MUT_00331
N.D
Exon
-
Qi Ming
./.
1
04
c.836A>G
-
p.Tyr279Cys
-
-
GenBank
MUT_00330
0.030
Exon
-
Qi Ming
./.
1
04
c.842T>C
-
p.Leu281Ser
c.842T>C
-
GenBank
MUT_00041
-
Exon
-
Qi Ming
./.
2
04
c.850G>T
-
p.Gly284X
c.850G>T
-
GenBank
MUT_00031
-
Exon
-
Qi Ming
./.
1
04
c.862T>C
-
p.Ser288Pro
c.862T>C
-
GenBank
MUT_00162
-
Exon
-
Qi Ming
./.
1
04
c.870G>A
-
p.Gly291Glu
c.870G>A
-
GenBank
MUT_00073
-
Exon
-
Qi Ming
./.
1
04
c.878A>C
-
p.Gln293Pro
c.878A>C
-
GenBank
MUT_00110
-
Exon
-
Qi Ming
./.
1
04
c.911+246C>G
-
-
-
-
GenBank
MUT_00329
0.497
Exon
-
Qi Ming
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