| Type | Description |
|---|---|
| Definition | myosin heavy chain 6 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-05 13:55:00 | Novel Mutation in MYH6 in 2 Unrelated Chinese Han Families With Familial Atrial Septal Defect. | 31638415 |
| 2019-11-23 12:48:00 | The p.Arg721Trp in MYH6 causes a cardiac syndrome with highly variable expressivity and emphasizes the importance of sarcomere integrity for cardiac development and function. | 29590334 |
| 2019-03-16 10:56:00 | Case Reports: venosus defect caused directly by MYH6 stop codon mutation. | 29969989 |
| 2018-09-08 10:21:00 | Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic Atrial Septal Defect (P<0.05); variants in FOXL2 and MYH6 were found in patients with isolated, sporadic Atrial Septal Defect (P<5x10-4). | 29505555 |
| 2018-03-10 11:59:00 | We developed an human cardiac alpha-myosin -induced myocarditis model in human HLA-DR4 transgenic mice that lack all mouse MHCII genes. | 28431892 |
| Type | IDs |
|---|---|
| Synonymous | ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC |
| Gene |
UniProtKB-ID:
MYH6_HUMAN
UniprotKB:
P13533
UniParc:
UPI0000160969
EMBL:
M21664,
M25162,
Z20656,
BC132667,
X05632,
GU324919,
M25142,
D00943,
AL049829,
M25141,
CH471078,
M25140
Ensembl:
ENSG00000197616
KO:
hsa:4624
|
| Nucleutide sequences |
EMBL-CDS:
EAW66154.1,
BAA00791.1,
CAA79675.1,
AAA60387.1,
ADL14490.1,
AAI32668.1,
CAA29120.1,
AAA60386.1,
AAA36344.1
Ensembl_TRS:
ENST00000405093
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000386041
RefSeq:
NP_002462.2
|
| Others |
UniRef100:
UniRef100_P13533
UniRef90:
UniRef90_P13533
UniRef50:
UniRef50_P12883
UniGene:
Hs.278432
CCDS:
CCDS9600.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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