| Type | Description |
|---|---|
| Definition | FAM161 centrosomal protein A |
| Date | Results | Publications |
|---|---|---|
| 2020-12-26 13:12:00 | Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations. | 32938956 |
| 2016-10-01 11:43:00 | novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population. | 26246154 |
| 2016-09-17 12:07:00 | Exome analysis revealed a nonsense homozygous mutation in FAM161A segregating with retinal degeneration with severe vision loss and a range of disease onset and progression. | 25007332 |
| 2016-06-11 10:11:00 | We screened a panel of 120 probands with recessive Retinitis Pigmentosa, and two were found to harbour biallelic FAM161A variants. | 26113502 |
| 2016-02-20 11:23:00 | founder mutation in FAM161A p.(Arg437*) underlies approximately 2% of arRP cases in the Dutch and Belgian populations. | 26574802 |
| Type | IDs |
|---|---|
| Synonymous | RP28 |
| Gene |
UniProtKB-ID:
F161A_HUMAN
UniprotKB:
Q3B820
UniParc:
UPI0000160B77,
UPI00005D3A3A,
UPI00006C0438
EMBL:
BC107163,
BX648834,
AC107081,
BC107162,
AK023367,
AK296255,
BX649029
Ensembl:
ENSG00000170264
KO:
hsa:84140
|
| Nucleutide sequences |
EMBL-CDS:
BAG58969.1,
BAB14544.1
Ensembl_TRS:
ENST00000405894,
ENST00000404929
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000385158,
ENSP00000385893
RefSeq:
XP_016860561.1,
XP_016860563.1,
XP_016860562.1,
NP_001188472.1,
NP_115556.2
|
| Others |
UniRef100:
UniRef100_Q3B820
UniRef90:
UniRef90_Q3B820
UniRef50:
UniRef50_Q3B820
UniGene:
Hs.440466
CCDS:
CCDS56120.1,
CCDS42687.2
|
| {{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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