| Type | Description |
|---|---|
| Definition | myopalladin |
| Date | Results | Publications |
|---|---|---|
| 2020-05-09 11:19:00 | A consanguineous family with congenital to adult-onset muscle weakness and hanging big toe was reported. Muscle biopsy showed minimal changes with internal nuclei, type 1 fiber predominance, and ultrastructural defects of Z line. Cardiac involvement was demonstrated by magnetic resonance imaging and late gadolinium enhancement. | 31133047 |
| 2017-11-04 10:35:00 | Targeted sequencing revealed trigenic mutations: c.700G>A/p.E234K in DES, c.2966G>A/p.R989H in MYPN, and c.5918G>C/p.R1973P in CACNA1C in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. | 28427417 |
| 2017-07-01 10:08:00 | Homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. | 28220527 |
| 2017-05-27 10:52:00 | results suggest that MYPN screening should be considered in individuals with mild nemaline myopathy, especially when cardiac problems or intranuclear rods are present | 28017374 |
| 2015-03-07 12:20:00 | Heterozygote Mypn(WT/Q526X) knock-in mice develop RCM due to persistence of mutant Mypn(Q526X) protein in the nucleus. | 25541130 |
| Type | IDs |
|---|---|
| Synonymous | CMD1DD, CMH22, MYOP, NEM11, RCM4 |
| Gene |
UniProtKB-ID:
MYPN_HUMAN,
A0A087WX60_HUMAN
UniprotKB:
Q86TC9,
A0A087WX60
UniParc:
UPI000246789F,
UPI000013FEAB,
UPI00002288CF,
UPI000007234F
EMBL:
AC024258,
AL832379,
AF328296,
AC016395,
AK027343,
AL834247,
AL832002,
AL512429
Ensembl:
ENSG00000138347
KO:
hsa:84665
|
| Nucleutide sequences |
EMBL-CDS:
BAB55048.1,
AAK50625.1,
CAD91155.1,
CAD38923.2,
CAD89906.1
Ensembl_TRS:
ENST00000373675,
ENST00000358913,
ENST00000540630,
ENST00000354393,
ENST00000613327
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000346369,
ENSP00000362779,
ENSP00000351790,
ENSP00000441668,
ENSP00000480757
RefSeq:
NP_115967.2,
NP_001243196.1,
XP_016872323.1,
XP_016872322.1,
XP_024304004.1,
NP_001243197.1
|
| Others |
UniRef100:
UniRef100_Q86TC9,
UniRef100_A0A087WX60
UniRef90:
UniRef90_Q86TC9,
UniRef90_Q86TC9-2
UniRef50:
UniRef50_Q86TC9,
UniRef50_Q86TC9-2
UniGene:
Hs.55205
CCDS:
CCDS7275.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
University of Toronto |
3 |
| 2 |
Max Planck Institute of Molecular Cell Biology and Genetics |
2 |
| 3 |
Molecular Genome Analysis, German Cancer Research Center, 69120 Heidelberg, Germany. s.wiemann@dkfz.de |
2 |
| 4 |
The Heart Institute |
2 |
| 5 |
University of North Carolina at Chapel Hill |
2 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
Enkhsaikhan Purevjav |
3 |
| 2 |
Carol A Otey |
3 |
| 3 |
Mihail Sarov |
2 |
| 4 |
Edward M Marcotte |
2 |
| 5 |
Andrew Emili |
2 |