| Type | Description |
|---|---|
| Definition | phosphodiesterase 6B |
| Date | Results | Publications |
|---|---|---|
| 2020-02-22 12:11:00 | Mutations in PDE6A and PDE6B accounted for 1.6% and 2.4%, respectively, in a cohort of French patients with rod-cone dystrophy (RCD) | 30998820 |
| 2019-06-15 10:56:00 | A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews. | 30820151 |
| 2019-04-13 10:45:00 | Mutation in PDE6B gene is associated with autosomal recessive retinitis pigmentosa disease progression. | 30153077 |
| 2019-01-05 12:01:00 | A novel PDE6B founder variant is likely to account for 16% of recessive inherited retinal dystrophy in Maori. Careful characterization of the clinical presentation permits identification of further Maori patients with a similar phenotype and simplifies the diagnostic algorithm. | 28488341 |
| 2015-10-10 10:17:00 | Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees. | 25827439 |
| Type | IDs |
|---|---|
| Synonymous | CSNB3, CSNBAD2, GMP-PDEbeta, PDEB, RP40, rd1 |
| Gene |
UniProtKB-ID:
PDE6B_HUMAN,
B4DHV7_HUMAN
UniprotKB:
P35913,
B4DHV7
UniParc:
UPI0001AE74EC,
UPI00019863C0,
UPI0000DBEE72,
UPI00017A70DA
EMBL:
BT009794,
X62692,
X90590,
AK316054,
AK295285,
X62694,
X62693,
X90589,
AC107464,
X90588,
X66142,
BC000249,
S41458,
X62695,
X90587
Ensembl:
ENSG00000133256
KO:
hsa:5158
|
| Nucleutide sequences |
EMBL-CDS:
CAA44569.1,
AAP88796.1,
AAH00249.1,
AAB22690.1,
BAH14425.1,
CAA62215.1,
CAA46932.1,
BAG58269.1
Ensembl_TRS:
ENST00000255622,
ENST00000429163,
ENST00000496514
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000406334,
ENSP00000255622,
ENSP00000420295
RefSeq:
XP_011511777.1,
NP_001337084.1,
XP_011511776.1,
XP_011511775.1,
XP_016863773.1,
NP_000274.3,
NP_001337083.1,
NP_001366176.1,
XP_011511778.1,
NP_001138764.2,
XP_011511780.1,
NP_001138763.2,
NP_001366175.1
|
| Others |
UniRef100:
UniRef100_P35913,
UniRef100_B4DHV7
UniRef90:
UniRef90_P35913,
UniRef90_F7H9Y8
UniRef50:
UniRef50_F7H9Y8,
UniRef50_P35913
UniGene:
Hs.623810,
Hs.654544
CCDS:
CCDS33932.1,
CCDS46993.1,
CCDS54703.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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