| Type | Description |
|---|---|
| Definition | protocadherin 19 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:37:00 | A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome. | 32314541 |
| 2021-01-09 13:33:00 | Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report. | 33087045 |
| 2020-11-21 13:27:00 | PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum. | 32852734 |
| 2020-08-12 13:52:00 | We reviewed literature on PCDH19-GCE, in order to define prevalence, semiology, treatments, and outcome of status epilepticus--{REVIEW} | 31678000 |
| 2020-06-13 10:44:00 | based on study of the clinical and genetic characteristics of patients, it was concluded that the so-called 'hot spots' are present in the PCDH19 gene, which are more common in the group of patients with mutations in PCDH19 gene, and that the clinical picture of early infantile epileptic encephalopathy type 9 is variable | 32105270 |
| Type | IDs |
|---|---|
| Synonymous | EFMR, EIEE9 |
| Gene |
UniProtKB-ID:
PCD19_HUMAN,
B3KU71_HUMAN
UniprotKB:
Q8TAB3,
B3KU71
UniParc:
UPI00001D7BCD,
UPI00003E5F84,
UPI000048195C,
UPI0000232D09
EMBL:
CR749278,
BC136628,
EF676096,
AB037734,
AL355593,
AK096591
Ensembl:
ENSG00000165194
KO:
hsa:57526
|
| Nucleutide sequences |
EMBL-CDS:
CAH18133.1,
ABX58058.1,
BAA92551.1,
AAI36629.1,
BAG53333.1
Ensembl_TRS:
ENST00000255531,
ENST00000373034,
ENST00000420881
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000362125,
ENSP00000255531,
ENSP00000400327
RefSeq:
NP_065817.2,
XP_011529299.1,
NP_001171809.1,
NP_001098713.1
|
| Others |
UniRef100:
UniRef100_B3KU71,
UniRef100_Q8TAB3
UniRef90:
UniRef90_A0A2R9BTF5,
UniRef90_Q8TAB3
UniRef50:
UniRef50_Q8TAB3
UniGene:
Hs.4993
CCDS:
CCDS55462.1,
CCDS48141.1,
CCDS43976.1
|
| {{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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