| Type | Description |
|---|---|
| Definition | myosin binding protein C, cardiac |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:28:00 | ALU transposition induces familial hypertrophic cardiomyopathy. | 31568709 |
| 2021-03-13 13:17:00 | Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model. | 31943169 |
| 2021-01-30 13:03:00 | Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. | 31919335 |
| 2021-01-09 13:31:00 | Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts. | 32030882 |
| 2021-01-09 13:27:00 | Mutation-specific pathology and treatment of hypertrophic cardiomyopathy in patients, mouse models and human engineered heart tissue. | 32217077 |
| Type | IDs |
|---|---|
| Synonymous | CMD1MM, CMH4, FHC, LVNC10, MYBP-C |
| Gene |
UniProtKB-ID:
MYPC3_HUMAN,
A5YM48_HUMAN
UniprotKB:
Q14896,
A5YM48
UniParc:
UPI000006EEAA,
UPI000156579F,
UPI00033362A2
EMBL:
S80778,
BC142685,
BC136546,
AY518390,
AC090582,
X84075,
Y10129,
EF560722,
U91629,
BC136543,
BC151211,
GU324918
Ensembl:
ENSG00000134571
KO:
hsa:4607
|
| Nucleutide sequences |
EMBL-CDS:
AAB35662.1,
AAC04620.1,
AAI36544.1,
CAA58882.1,
AAI42686.1,
CAA71216.1,
ADL14489.1,
AAI36547.1,
AAR89909.1,
AAI51212.1,
ABQ59032.1
Ensembl_TRS:
ENST00000545968
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000442795
RefSeq:
NP_000247.2
|
| Others |
UniRef100:
UniRef100_A5YM48,
UniRef100_Q14896
UniRef90:
UniRef90_Q14896
UniRef50:
UniRef50_Q14896
UniGene:
Hs.524906
CCDS:
CCDS53621.1
|
| {{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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