| Type | Description |
|---|---|
| Definition | myosin binding protein C, slow type |
| Date | Results | Publications |
|---|---|---|
| 2020-04-04 12:45:00 | Data substantiate that damaging variants in MYBPC1 are associated with a new form of an early-onset myopathy with tremor, which is a defining and consistent characteristic in all affected individuals, with no contractures. Recognition of this expanded myopathic phenotype can enable identification of individuals with MYBPC1 variants without arthrogryposis. | 31264822 |
| 2020-04-04 10:48:00 | Two novel missense mutations in MYBPC1 were linked to a dominant, mild skeletal myopathy associated with a distinctive tremor. | 31025394 |
| 2017-05-27 10:12:00 | A novel milder MYBPC1 homozygous phenotype causes arthrogryposis multiplex congenita in a consanguineous Israeli Druze pedigree. | 26661508 |
| 2016-07-16 11:01:00 | Ca(2+) modulates the interaction of cMyBP-C with the thin filament in the sarcomere. | 26831109 |
| 2016-02-06 12:01:00 | Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 were both found to occur in the C2 immunoglobulin domain, which constitutes part of the binding site for the S2 subfragment of myosin. | 25679999 |
| Type | IDs |
|---|---|
| Synonymous | LCCS4, MYBPCC, MYBPCS |
| Gene |
UniProtKB-ID:
MYPC1_HUMAN,
Q86TA8_HUMAN,
B3KPP3_HUMAN,
A8KAB1_HUMAN
UniprotKB:
Q00872,
Q86TA8,
B3KPP3,
A8KAB1
UniParc:
UPI000189A78C,
UPI00003719C6,
UPI000016787F,
UPI00001910E5,
UPI0001AE6B26,
UPI000189A77B,
UPI0000EE2655,
UPI00003519B0,
UPI0002065698,
UPI00001FB397,
UPI0000DA58D7,
UPI000012FBC7,
UPI00015DAA8C
EMBL:
AL832456,
AC010205,
AK303401,
X66276,
AK056587,
CH471054,
BC143495,
X73114,
AL832000,
AC090671,
AL834249,
BC117217,
BC092418,
AK296681,
BC143504,
AL831993,
AK295727,
AK292976,
AC117505,
BC143502,
BC143503
Ensembl:
ENSG00000196091
KO:
hsa:4604
|
| Nucleutide sequences |
EMBL-CDS:
EAW97669.1,
CAA51545.1,
EAW97665.1,
CAA46987.1,
BAG59277.1,
AAI17218.1,
AAH92418.1,
CAD38925.1,
CAD89907.1,
AAI43505.1,
AAI43496.1,
EAW97672.1,
BAH13954.1,
CAD91144.1,
BAG58568.1,
AAI43503.1,
AAI43504.1,
CAD89927.1,
BAG51755.1,
BAF85665.1
Ensembl_TRS:
ENST00000452455,
ENST00000361685,
ENST00000536007,
ENST00000361466,
ENST00000553190,
ENST00000545503,
ENST00000547405,
ENST00000392934,
ENST00000550270,
ENST00000541119
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000354845,
ENSP00000442847,
ENSP00000446128,
ENSP00000448175,
ENSP00000447900,
ENSP00000449702,
ENSP00000354849,
ENSP00000440034,
ENSP00000400908,
ENSP00000376665
RefSeq:
XP_006719474.1,
XP_006719472.1,
XP_016874805.1,
XP_006719473.1,
XP_016874807.1,
XP_006719469.1,
NP_996557.1,
XP_016874804.1,
XP_016874806.1,
XP_016874809.1,
XP_006719470.1,
NP_001241648.1,
NP_001241650.1,
NP_996555.1,
XP_016874810.1,
NP_001241649.1,
XP_006719468.1,
NP_996556.1,
XP_006719471.1,
NP_002456.2,
NP_001241647.1,
NP_001241651.1,
NP_001241652.1,
XP_016874811.1,
XP_016874808.1,
XP_005268933.1
|
| Others |
UniRef100:
UniRef100_B3KPP3,
UniRef100_A8KAB1,
UniRef100_Q86TA8,
UniRef100_Q00872
UniRef90:
UniRef90_B3KPP3,
UniRef90_Q00872
UniRef50:
UniRef50_Q00872,
UniRef50_B3KPP3
UniGene:
Hs.654589
CCDS:
CCDS55877.1,
CCDS58273.1,
CCDS58271.1,
CCDS58268.1,
CCDS58269.1,
CCDS9083.1,
CCDS9084.1,
CCDS58270.1,
CCDS58272.1,
CCDS9085.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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