| Type | Description |
|---|---|
| Definition | proline rich 12 |
| Date | Results | Publications |
|---|---|---|
| 2019-04-06 12:11:00 | Here we report on three unrelated patients with heterozygous de novo apparent loss-of-function mutations in PRR12 detected by clinical whole exome sequencing: c.1918G>T (p.Glu640*), c.4502_4505delTGCC (p.Leu1501Argfs*146) and c.903_909dup (p.Pro304Thrfs*46). All three patients had global developmental delay, intellectual disability, eye and vision abnormalities, dysmorphic features, and neuropsychiatric problems | 29556724 |
| 2016-06-28 11:32:00 | This case represents the first constitutional balanced translocation disrupting and fusing both MIZ-type containing and proline-rich 12 and provides clues for the potential function and effects of these in the central nervous system. | 26163108 |
| Type | IDs |
|---|---|
| Synonymous | KIAA1205 |
| Gene |
UniProtKB-ID:
PRR12_HUMAN
UniprotKB:
Q9ULL5
UniParc:
UPI000FEB5CFB,
UPI0001596889
EMBL:
BC034003,
AC010619,
AC011495,
AB033031
Ensembl:
ENSG00000126464
KO:
hsa:57479
|
| Nucleutide sequences |
EMBL-CDS:
AAH34003.1,
BAA86519.1
Ensembl_TRS:
ENST00000418929
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000394510
RefSeq:
NP_065770.1
|
| Others |
UniRef100:
UniRef100_Q9ULL5
UniRef90:
UniRef90_Q9ULL5
UniRef50:
UniRef50_Q9ULL5
UniGene:
Hs.590971
CCDS:
CCDS46143.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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