| Type | Description |
|---|---|
| Definition | clarin 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:32:00 | Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing. | 31968401 |
| 2020-04-11 11:11:00 | Studied role of clarin1 (CLRN1) in activation of hair cell mechanotransduction function through an unconventional secretory pathway, and the possibility this activation may be therapeutic to prevent hair cell dysfunction. | 31097578 |
| 2018-12-22 12:17:00 | Study founds 1 deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon that underlies severe Usher syndrome in a family on the Arabian Peninsula. | 28469144 |
| 2018-08-11 10:08:00 | We report here novel homozygous mutations in various genes causing USH, extending the spectrum of causative mutations. We also prove combined sequencing techniques as useful tools to identify novel disease-causing mutations. To the best of our knowledge, this is the largest report of a genetic analysis of Israeli and Palestinian families (n = 74) with different USH subtypes. | 29490346 |
| 2015-08-22 11:12:00 | This is the first report of Usher syndrome type 3 with a CLRN1 gene mutation in Asian populations. | 25743179 |
| Type | IDs |
|---|---|
| Synonymous | RP61, USH3, USH3A |
| Gene |
UniProtKB-ID:
CLRN1_HUMAN
UniprotKB:
P58418
UniParc:
UPI0000073C5F,
UPI0001E43709,
UPI0000137E53
EMBL:
HM626132,
CH471052,
AF495717,
BC074970,
AF388366,
AC020636,
AF482697,
BC074971
Ensembl:
ENSG00000163646
KO:
hsa:7401
|
| Nucleutide sequences |
EMBL-CDS:
ADM63096.1,
EAW78815.1,
EAW78814.1,
AAL09581.1,
AAH74970.1,
AAM88774.1,
AAN07148.1,
AAH74971.1
Ensembl_TRS:
ENST00000328863,
ENST00000295911,
ENST00000327047
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000295911,
ENSP00000329158,
ENSP00000322280
RefSeq:
NP_001243748.1,
NP_443721.1,
NP_777367.1,
NP_001182723.1
|
| Others |
UniRef100:
UniRef100_P58418
UniRef90:
UniRef90_P58418
UniRef50:
UniRef50_P58418
UniGene:
Hs.745448
CCDS:
CCDS35492.1,
CCDS3153.1,
CCDS56285.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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