Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
MYH7 (myosin, heavy chain 7, cardiac muscle, beta)
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Unique variants in the MYH7 gene
The variants shown are described using the NM_000257.2 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
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Date
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Date
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Date
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Date
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Date
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Date
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Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
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Numeric
23|24
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Numeric
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<23
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combination
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all entries containing 'South Asian', but not containing 'South East Asian'
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323 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.1-2127A>T
-
-
lymphocyte
-
GenBank
MYH7_00015
-
-
-
Qi Ming
./.
2
03
c.-8-25G>T
-
-
blood
-
GenBank
MYH7_00184, MYH7_00347
0.90 in patient
-
-
Qi Ming
./.
1
int4
c.345+1G>A
-
-
blood
-
GenBank
MYH7_00351
-
-
-
Qi Ming
./.
2
34
c.4660G>C
-
p.Glu1554Gln
unknown
-
GenBank
MYH7_00305
NA
-
-
Qi Ming
./.
3
15, 08, 00
c.?
-
p.Glu497Asp, p.Arg237Cys
blood, peripheral blood
-
GenBank
MYH7_00238, MYH7_00040, MYH7_00053
4/328
1 more item
-
Qi Ming
./.
1
03
c.1A>G
-
p.Met1Val
unknown
-
GenBank
MYH7_00343
NA
-
-
Qi Ming
./.
1
03
c.8A>C
-
p.Asp3Ala
unknown
-
GenBank
MYH7_00342
NA
-
-
Qi Ming
./.
1
03
c.11C>T
-
p.Ser4Leu
blood
-
GenBank
MYH7_00256
-
-
-
Qi Ming
./.
1
03
c.29_31delGGG
-
p.Gly10del
blood
-
GenBank
MYH7_00187
-
-
-
Qi Ming
./.
1
03
c.49C>T
-
p.Arg17Cys
unknown
-
GenBank
MYH7_00341
NA
-
-
Qi Ming
./.
3
03
c.77C>T
-
p.Ala26Val
blood, unknown
-
GenBank
MYH7_00117
NA
-
-
Qi Ming
./.
1
03
c.115G>A
-
p.Val39Met
blood
-
GenBank
MYH7_00042
-
-
-
Qi Ming
./.
1
03
c.160C>T
-
p.Arg54X
Blood
-
GenBank
MYH7_00271
-
This is the first report of a nonsense mutation in the human cardiac ?-MHC gene.
-
Qi Ming
./.
6
03
c.189C>T
-
p.Thr63Thr
blood, lymphocyte
-
GenBank
MYH7_00021
0.683, 0.54
rs2069540
-
Qi Ming
./.
1
04
c.203C>A
-
p.Thr68Lys
blood
-
GenBank
MYH7_00043
-
RLC binding domain and ATP binding domain.
-
Qi Ming
./.
1
04
c.321T>G
-
p.Asp107Glu
unknown
-
GenBank
MYH7_00340
NA
-
-
Qi Ming
./.
1
04
c.343T>C
-
p.Tyr115His
blood
-
GenBank
MYH7_00148
-
-
-
Qi Ming
./.
1
05
c.427C>G
-
p.Arg143Gly
lymphocyte
-
GenBank
MYH7_00014
-
-
-
Qi Ming
./.
1
05
c.427C>G
-
p.Arg143Gly
blood
-
GenBank
MYH7_00080
-
Asymmetrical septal hypertrophy.
-
Qi Ming
./.
1
05
c.427C>T
-
p.Arg143Trp
blood
-
GenBank
MYH7_00174
-
-
-
Qi Ming
./.
2
05
c.428G>A
-
p.Arg143Gln
blood
-
GenBank
MYH7_00118
-
-
-
Qi Ming
./.
1
05
c.438G>C
-
p.Lys146Asn
blood
-
GenBank
MYH7_00143
-
Familial.
-
Qi Ming
./.
1
05
c.438G>T
-
p.Lys146Asn
blood
-
GenBank
MYH7_00239
-
-
-
Qi Ming
./.
1
05
c.443G>C
-
p.Ser148Ile
blood
-
GenBank
MYH7_00081
-
Asymmetrical septal hypertrophy.
-
Qi Ming
./.
1
05
c.480C>T
-
p.Asn160Asn
blood
-
GenBank
MYH7_00182
-
Rare variant.
-
Qi Ming
./.
1
05
c.502+18G>A
-
-
blood
-
GenBank
MYH7_00183
-
Rare variant.
-
Qi Ming
./.
1
07
c.556G>C
-
p.Val186Leu
blood
-
GenBank
MYH7_00144
-
Familial
-
Qi Ming
./.
1
07
c.569G>C
-
p.Arg190Thr
blood
-
GenBank
MYH7_00027
-
-
-
Qi Ming
./.
1
07
c.586G>A
-
p.Ala196Thr
blood
-
GenBank
MYH7_00129
-
Active site.
-
Qi Ming
./.
6
07
c.597A>G
-
p.Ala199Ala
blood, Peripheral blood , lymphocyte
-
GenBank
MYH7_00016
0.033, 5/328
Rare variant., rs2069541
-
Qi Ming
./.
1
07
c.598delG
-
p.Ala200ProfsX64
unknown
-
GenBank
MYH7_00350
NA
-
-
Qi Ming
./.
1
07
c.602T>C
-
p.Ile201Thr
blood
-
GenBank
MYH7_00095
-
-
-
Qi Ming
./.
1
07
c.619A>C
-
p.Lys207Gln
blood
-
GenBank
MYH7_00091
-
atrial fibrillation, heterozygotes bradycardic.
-
Qi Ming
./.
3
07
c.632C>T
-
p.Pro211Leu, p.Pro 211 Leu
blood, DNA sample
-
GenBank
MYH7_00090
-
Asymmetrical septal hypertrophy., Benign, Active site.
-
Qi Ming
./.
1
08
c.641G>A
-
p.Gly214Asp
blood
-
GenBank
MYH7_00134
-
-
-
Qi Ming
./.
1
08
c.646C>G
-
p.Leu216Val
blood
-
GenBank
MYH7_00135
-
-
-
Qi Ming
./.
1
08
c.679C>G
-
p.Leu227Val
blood
-
GenBank
MYH7_00107
-
-
-
Qi Ming
./.
2
08
c.695A>G
-
p.Asn232Ser
Blood
-
GenBank
MYH7_00045
-
This mutation did not create or destroy any restriction enzyme site.,
1 more item
-
Qi Ming
./.
1
08
c.697G>T
-
p.Ala233Ser
Peripheral blood
-
GenBank
MYH7_00271
-
-
-
Qi Ming
./.
1
08
c.709C>T
-
p.Arg237Trp
unknown
-
GenBank
MYH7_00338
NA
-
-
Qi Ming
./.
1
08
c.724T>C
-
p.Ser242Pro
unknown
-
GenBank
MYH7_00337
NA
-
-
Qi Ming
./.
1
08
c.728G>A
-
p.Arg243His
blood
-
GenBank
MYH7_00237
-
1 more item
-
Qi Ming
./.
8
08
c.732C>T
-
p.Phe244Phe
blood, Peripheral blood , lymphocyte
-
GenBank
MYH7_00017, MYH7_00029, MYH7_00037
0.267, 6/328
rs2069542
-
Qi Ming
./.
1
09
c.739T>C
-
p.Phe247Leu
blood
-
GenBank
MYH7_00257
-
-
-
Qi Ming
./.
7
09
c.746G>A
-
p.Arg249Gln
blood, blood lymphocytes
-
GenBank
MYH7_00046
-
Active site., LOD score: 4.0, Concentric hypertrophy. ST depression.,
1 more item
-
Qi Ming
./.
1
09
c.767G>A
-
p.Gly256Glu
blood
-
GenBank
MYH7_00191
-
-
-
Qi Ming
./.
1
09
c.776C>A
-
p.Ala259Glu
blood
-
GenBank
MYH7_00136
-
-
-
Qi Ming
./.
2
09
c.788T>C
-
p.Ile263Thr
blood
-
GenBank
MYH7_00047
-
One sudden death at 29 years of age was reported in the family history.
-
Qi Ming
./.
1
09
c.789A>G
-
p.Ile263Met
blood
-
GenBank
MYH7_00149
-
-
-
Qi Ming
./.
2
10
c.842G>C
-
p.Arg281Thr
blood
-
GenBank
MYH7_00137
-
The mutation affects a highly conserved amino acid in the myosin subfragment-1.
-
Qi Ming
./.
1
10
c.877delA
-
p.Lys294SerfsX9
unknown
-
GenBank
MYH7_00336
NA
-
-
Qi Ming
./.
1
11
c.902T>A
-
p.Leu301Gln
blood
-
GenBank
MYH7_00247
-
1 more item
-
Qi Ming
./.
1
11
c.926A>T
-
p.Asp309Val
blood
-
GenBank
MYH7_00031
-
-
-
Qi Ming
./.
1
11
c.935T>G
-
p.Phe312Cys
blood
-
GenBank
MYH7_00150
-
-
-
Qi Ming
./.
1
11
c.958G>A
-
p.Val320Met
lymphocyte
-
GenBank
MYH7_00013
-
-
-
Qi Ming
./.
6
11
c.975C>T
-
p.Asp325Asp
blood, Peripheral blood , lymphocyte
-
GenBank
MYH7_00018
0.050, 0.96 in patient
Rare variant., rs2231124
-
Qi Ming
./.
1
11
c.983A>G
-
p.Glu328Gly
blood
-
GenBank
MYH7_00108
-
-
-
Qi Ming
./.
3
12
c.1046T>C
-
p.Met349Thr
blood, blood lymphocytes
-
GenBank
MYH7_00151
-
-
-
Qi Ming
./.
2
12
c.1051A>G
-
p.Lys351Glu
blood
-
GenBank
MYH7_00082
-
Mid-cavity
-
Qi Ming
./.
6
12
c.1062C>T
-
p.Gly354Gly
blood, Peripheral blood , lymphocyte
-
GenBank
MYH7_00019
0.125, 0.91 in patient
rs735712
-
Qi Ming
./.
1
12
c.1063G>A
-
p.Ala355Thr
blood
-
GenBank
MYH7_00048
-
-
-
Qi Ming
./.
6
12
c.1095G>A
-
p.Lys365Lys
blood, Peripheral blood , unknown
-
GenBank
MYH7_00102, MYH7_00030
0.82 in patient, T=0.102/128
-
-
Qi Ming
./.
1
12
c.1122G>A
-
p.Glu374Glu
blood
-
GenBank
MYH7_00185
-
-
-
Qi Ming
./.
1
12
c.1125A>G
-
p.Pro375Pro
blood
-
GenBank
MYH7_00186
-
-
-
Qi Ming
./.
1
12
c.1128C>A
-
p.Asp376Glu
unknown
-
GenBank
MYH7_00335
A=0.144/181
-
-
Qi Ming
./.
4
12
c.1128C>T
-
p.Asp376Asp , p.Asp376Glu
blood, lymphocyte, bloood
-
GenBank
MYH7_00022
0.150
rs2231126
-
Qi Ming
./.
1
13
c.1149G>T
-
p.Lys383Asn
blood
-
GenBank
MYH7_00188
-
-
-
Qi Ming
./.
1
13
c.1154C>T
-
p.Ala385Val
blood
-
GenBank
MYH7_00152
-
-
-
Qi Ming
./.
1
13
c.1163T>C
-
p.Met388Thr
peripheral blood (PB)
-
GenBank
MYH7_00250
-
-
-
Qi Ming
./.
1
13
c.1168_1170delinsGTT
-
p.Leu390Val
blood
-
GenBank
MYH7_00284
-
1 more item
-
Qi Ming
./.
1
13
c.1177G>A
-
p.Ala393Thr
blood
-
GenBank
MYH7_00132
-
-
-
Qi Ming
./.
1
13
c.1182C>T
-
p.Asp376Asp
Peripheral blood
-
GenBank
MYH7_00278
-
-
-
Qi Ming
./.
1
13
c.1183_1212delinsGACCGTGCTCAAGGGGCTGTGCCACCCTCGGGTAAA
-
p.Leu395_Val404delinsAspArgAlaGlnGlyAlaValProProSerGlyLys
blood
-
GenBank
MYH7_00195
-
The site of the mutation, near the actin-binding interface of myosin S-1.
-
Qi Ming
./.
10
13
c.1207C>T
-
p.Arg403Trp
blood, blood lymphocytes, DNA sample, peripheral blood, lymphocyte
-
GenBank
MYH7_00023
0.358
Intermediate, rs3218714 , No evidence of sudden death or heart failure in this small faimily.,
1 more item
-
Qi Ming
./.
1
13
c.1207_1208delinsGA
-
p.Arg403Glu
blood lymphocytes
-
GenBank
MYH7_00229
-
-
-
Qi Ming
./.
11
13
c.1208G>A
-
p.Arg403Gln, p.Arg403Glu
blood, Lymphoblastoid cell, Peripheral blood
-
GenBank
MYH7_00050
-
Suggests that a critical function of myosin is disrupted by this mutation., actin binding.,
3 more items
-
Qi Ming
./.
6
13
c.1208G>T
-
p.Arg403Leu
blood, DNA sample
-
GenBank
MYH7_00049
-
the substution lies close to the actin binding interface,
1 more item
-
Qi Ming
./.
1
13
c.1210G>A
-
p.Val404Met
blood
-
GenBank
MYH7_00153
-
-
-
Qi Ming
./.
1
13
c.1210G>T
-
p.Val404Leu
blood
-
GenBank
MYH7_00130
-
actin binding.
-
Qi Ming
./.
1
13
c.1216G>A
-
p.Val406Met
blood
-
GenBank
MYH7_00209
-
-
-
Qi Ming
./.
1
13
c.1220G>T
-
p.Gly407Val
blood
-
GenBank
MYH7_00154
-
-
-
Qi Ming
./.
3
13
c.1231G>A
-
p.Val411Ile
blood
-
GenBank
MYH7_00109
-
actin binding.
-
Qi Ming
./.
1
13
c.1235C>A
-
p.Thr412Asn
blood
-
GenBank
MYH7_00096
-
-
-
Qi Ming
./.
1
14
c.1273G>A
-
p.Gly425Arg
blood
-
GenBank
MYH7_00119
-
-
-
Qi Ming
./.
2
14
c.1283C>T
-
p.Ala428Val
blood
-
GenBank
MYH7_00051
-
RLC binding domain and ATP binding domain. Conserved amino acids in cardiac isoforms.
-
Qi Ming
./.
1
14
c.1304T>C
-
p.Met435Thr
blood
-
GenBank
MYH7_00110
-
-
-
Qi Ming
./.
1
14
c.1318G>A
-
p.Val440Met
blood
-
GenBank
MYH7_00155
-
-
-
Qi Ming
./.
2
14
c.1324C>T
-
p.Arg442Cys
peripheral blood (PB), unknown
-
GenBank
MYH7_00251
NA
-
-
Qi Ming
./.
1
14
c.1328T>C
-
p.Ile443Thr
blood
-
GenBank
MYH7_00052
-
-
-
Qi Ming
./.
1
14
c.1331A>G
-
p.Asn444Ser
blood
-
GenBank
MYH7_00032
-
-
-
Qi Ming
./.
1
14
c.1348A>G
-
p.Lys450Glu
blood
-
GenBank
MYH7_00201
-
-
-
Qi Ming
./.
1
14
c.1349A>C
-
p.Lys450Thr
blood
-
GenBank
MYH7_00120
-
-
-
Qi Ming
./.
13
14
c.1357C>T
-
p.Arg453Cys
blood, peripheral blood (PB), DNA sample, blood sample
-
GenBank
MYH7_00054
-
mutation Arg453Cys in MYH7 created an NlaIII site, Malign, active site.,
3 more items
-
Qi Ming
./.
2
14
c.1358G>A
-
p.Arg453His
blood, peripheral blood
-
GenBank
MYH7_00111
-
-
-
Qi Ming
./.
1
14
c.1370T>C
-
p.Ile457Thr
lymphocyte
-
GenBank
MYH7_00012
-
-
-
Qi Ming
./.
1
14
c.1396G>C
-
p.Glu466Gln
unknown
-
GenBank
MYH7_00334
NA
-
-
Qi Ming
./.
1
15
c.1435A>G
-
p.Asn479Asp
blood
-
GenBank
MYH7_00056
-
-
-
Qi Ming
./.
1
15
c.1436A>G
-
p.Asn479Ser
blood
-
GenBank
MYH7_00083
-
Asymmetrical septal hypertrophy
-
Qi Ming
./.
2
15
c.1447G>A
-
p.Glu483Lys
blood
-
GenBank
MYH7_00057
-
Reactive thiols , MYH7 mutations and MYBPC3 mutations are repoted.
-
Qi Ming
./.
1
15
c.1477A>C
-
p.Met493Leu
peripheral blood (PB)
-
GenBank
MYH7_00246
-
mutation Met493Leu in MYH7 abolished an NspI site
-
Qi Ming
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