| Type | Description |
|---|---|
| Definition | myosin heavy chain 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-31 13:14:00 | Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. | 31746383 |
| 2020-07-11 11:52:00 | Report a case-control study investigating the role of MYH3 among non-syndromic atrial septal defect patients in contributing to septal development. The non-synonymous c. 3574G>A (p.Ala1192Thr) [p = 0.001, OR = 2.30 (1.36-3.87)] located within the tail domain indicated a highly conserved protein region. | 32315303 |
| 2019-08-17 10:20:00 | two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees | 31030430 |
| 2019-03-02 11:41:00 | Our findings also support a role for MYH3 in both muscle and bone development, suggesting a phenotypic continuum in MYH3-related disorders. | 29314551 |
| 2018-12-22 12:22:00 | Although some MYH3 variants cause dominant Spondylocarpotarsal synostosis syndrome, these data indicate that others (notably truncating variants) do not, except in the context of compound heterozygosity for a second hypomorphic allele. | 29805041 |
| Type | IDs |
|---|---|
| Synonymous | DA2A, DA2B, DA8, HEMHC, MYHC-EMB, MYHSE1, SMHCE |
| Gene |
UniProtKB-ID:
MYH3_HUMAN,
Q5GJ67_HUMAN
UniprotKB:
P11055,
Q5GJ67
UniParc:
UPI00004C7A8D,
UPI000013C892
EMBL:
AY517555,
X13100,
X15696,
X51593,
X13988,
AC002347
Ensembl:
ENSG00000109063
KO:
hsa:4621
|
| Nucleutide sequences |
EMBL-CDS:
CAA32167.1,
CAA33731.1,
CAA31492.1,
CAA35942.1,
AAT44528.1
Ensembl_TRS:
ENST00000583535
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000464317
RefSeq:
XP_011522173.1,
NP_002461.2,
XP_011522172.1
|
| Others |
UniRef100:
UniRef100_Q5GJ67,
UniRef100_P11055
UniRef90:
UniRef90_Q5GJ67,
UniRef90_P11055
UniRef50:
UniRef50_A0A667WVB6,
UniRef50_P11055
UniGene:
Hs.440895
CCDS:
CCDS11157.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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