| Type | Description |
|---|---|
| Definition | dysferlin |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:07:00 | AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy. | 32087766 |
| 2021-03-20 13:25:00 | Radiological findings in siblings with dysferlin mutation with diverse phenotype. | 31770675 |
| 2020-06-20 12:15:00 | In patients with limb-girdle muscular dystrophy type 2B, two new mutations were found in DYSF. A nonsense mutation c.2419C > T, which eliminates downstream part of the protein, and a novel one c. (1,053 + 1_1,054-1)_(1,397 + 1_1,398-1)del causing deletion of the DNA from exon 12 to exon 15. Two unrelated families are from the same ethnicity and share the same mutation and haplotype patterns, suggesting a founder mutation. | 31693312 |
| 2020-05-09 10:46:00 | Results support a role of dysferlin in actin cytoskeleton dynamics in muscle cells and suggest that this mechanism could be deregulated in dysferlinopathy. | 31861684 |
| 2020-04-04 12:18:00 | The initial C2 domains of dysferlin and myoferlin are 57% similar (42% identical). Unlike dysferlin C2A, myoferlin binds two Ca2+ with equivalent affinity. Unlike dysferlin C2A, the membrane binding loop 1 of myoferlin C2A is relatively rigid. | 31004665 |
| Type | IDs |
|---|---|
| Synonymous | FER1L1, LGMD2B, LGMDR2, MMD1 |
| Gene |
UniProtKB-ID:
DYSF_HUMAN
UniprotKB:
O75923
UniParc:
UPI000171F70F,
UPI000171F6AD,
UPI0000129A56,
UPI000171F622,
UPI000171F620,
UPI000020866F,
UPI000171F576,
UPI000185D554,
UPI000171F710,
UPI000171F6AE,
UPI000171F51B,
UPI0000DD0628,
UPI000171F577,
UPI0000EE25A1,
UPI000171F621
EMBL:
EU515166,
EF015906,
EU515163,
EU515164,
DQ267935,
EU515158,
EU515161,
AC010147,
EU515162,
EU515155,
AJ007973,
EU515159,
EU515165,
CH471053,
EU515157,
AJ007670,
DQ976379,
AK074649,
EU515156,
AC104084,
EU515160,
AF075575,
AK074104
Ensembl:
ENSG00000135636
KO:
hsa:8291
|
| Nucleutide sequences |
EMBL-CDS:
BAG51981.1,
ABI75150.1,
ACB12760.1,
ACB12758.1,
ACB12759.1,
ACB12752.1,
ACB12757.1,
AAY14954.1,
CAA07800.1,
ACB12754.1,
AAY24199.1,
ACB12756.1,
EAW99763.1,
ACB12763.1,
BAB84930.1,
ACB12762.1,
ACB12755.1,
ACB12761.1,
ABB89736.1,
CAA07603.1,
ABK20181.1,
AAC63519.1,
ACB12753.1
Ensembl_TRS:
ENST00000409762,
ENST00000409744,
ENST00000410020,
ENST00000409582,
ENST00000410041,
ENST00000429174,
ENST00000258104,
ENST00000409366,
ENST00000409651,
ENST00000413539,
ENST00000394120
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000386683,
ENSP00000377678,
ENSP00000386547,
ENSP00000398305,
ENSP00000386617,
ENSP00000386881,
ENSP00000258104,
ENSP00000407046,
ENSP00000387137,
ENSP00000386512,
ENSP00000386285
RefSeq:
NP_001124448.1,
NP_001124453.1,
NP_003485.1,
NP_001124451.1,
NP_001124458.1,
NP_001124449.1,
NP_001124457.1,
NP_001124459.1,
XP_005264642.1,
XP_005264641.1,
NP_001123927.1,
NP_001124456.1,
NP_001124454.1,
NP_001124455.1,
NP_001124450.1,
NP_001124452.1
|
| Others |
UniRef100:
UniRef100_O75923
UniRef90:
UniRef90_O75923
UniRef50:
UniRef50_O75923
UniGene:
Hs.252180
CCDS:
CCDS46324.1,
CCDS46332.1,
CCDS46323.1,
CCDS46326.1,
CCDS1918.1,
CCDS46328.1,
CCDS46327.1,
CCDS46329.1,
CCDS46325.1,
CCDS46331.1,
CCDS46330.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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Ensembl: {{protein.nucleotideEnsembl}} |
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Ensembl: {{protein.proteinEnsembl}} |
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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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