| Type | Description |
|---|---|
| Definition | calpain 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-26 13:02:00 | NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay. | 31612648 |
| 2020-07-18 12:04:00 | Calpain-3 (CAPN3), a 94-kDa member of the calpain protease family, is abundant in skeletal muscle. Mutations in the CAPN3 gene cause limb girdle muscular dystrophy type 2A, indicating that CAPN3 plays important roles in muscle physiology. | 32200007 |
| 2020-04-18 12:26:00 | Almost all Serbian patients with calpainopathy had c.550delA mutation. In most of the patients, disease started in the childhood or early adulthood. The disease affected both shoulder girdle - upper arm and pelvic girdle - thigh muscles with similar frequency, although muscles of lower limbs are more severely impaired. None had cardiomyopathy, 21% mild conduction defects. Respiratory function impaired 21%. | 31788660 |
| 2020-02-15 10:20:00 | Studies provide evidence for a role of CAPN3 mutations in calcium homeostasis in patients with limb-girdle muscular dystrophy recessive [review] | 31540302 |
| 2019-11-30 12:23:00 | Two novel homozygous mutations, c.2242C>G (p.Arg748Gly) and c.291C>A (p.Phe97Leu) were identified in 2 patients with Limb girdle muscular dystrophy type 2A | 30500922 |
| Type | IDs |
|---|---|
| Synonymous | CANP3, CANPL3, LGMD2, LGMD2A, LGMDD4, LGMDR1, nCL-1, p94 |
| Gene |
UniProtKB-ID:
CAN3_HUMAN,
A0A0S2Z3E1_HUMAN
UniprotKB:
P20807,
A0A0S2Z3E1
UniParc:
UPI000006D604,
UPI000002A562,
UPI000000103F,
UPI000002A561,
UPI0000070D7B
EMBL:
BC128605,
AY902237,
BT007322,
BC146649,
KU177954,
BC067126,
BC003169,
BC003521,
AF127764,
BC007810,
BC100782,
AF209502,
AF127765,
BC107791,
BC146672,
BC004883,
X85030,
AC012651
Ensembl:
ENSG00000092529
KO:
hsa:825
|
| Nucleutide sequences |
EMBL-CDS:
AAH03169.1,
AAD28254.3,
AAI07792.1,
AAH07810.3,
AAI28606.1,
AAH67126.1,
AAH04883.1,
AAW69391.1,
AAI00783.1,
AAI46650.1,
CAA59403.1,
AAL40183.1,
AAI46673.1,
AAD28253.1,
AAP35986.1,
AAH03521.1,
ALQ33412.1
Ensembl_TRS:
ENST00000673692,
ENST00000397200,
ENST00000569136,
ENST00000674149,
ENST00000673890,
ENST00000674146,
ENST00000673936,
ENST00000674018,
ENST00000674139,
ENST00000673771,
ENST00000397163,
ENST00000397204,
ENST00000674119,
ENST00000673851,
ENST00000673886,
ENST00000337571,
ENST00000674093,
ENST00000349748,
ENST00000673928,
ENST00000357568,
ENST00000356316
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000455254,
ENSP00000501155,
ENSP00000350181,
ENSP00000501303,
ENSP00000348667,
ENSP00000380349,
ENSP00000501271,
ENSP00000501054,
ENSP00000501217,
ENSP00000380387,
ENSP00000380384,
ENSP00000183936,
ENSP00000501023,
ENSP00000501142,
ENSP00000501138,
ENSP00000501099,
ENSP00000501189,
ENSP00000501293,
ENSP00000501112,
ENSP00000336840,
ENSP00000501175
RefSeq:
NP_775110.1,
NP_077320.1,
NP_775111.1,
NP_775113.1,
NP_775112.1,
NP_000061.1
|
| Others |
UniRef100:
UniRef100_P20807,
UniRef100_P20807-4
UniRef90:
UniRef90_P20807,
UniRef90_P20807-4
UniRef50:
UniRef50_P20807-4,
UniRef50_P20807
UniGene:
Hs.143261
CCDS:
CCDS10086.1,
CCDS10085.1,
CCDS45246.1,
CCDS32207.1,
CCDS45245.1
|
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|---|---|---|---|---|---|---|---|---|
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