| Type | Description |
|---|---|
| Definition | bestrophin 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:08:00 | ""Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance"". | 32207364 |
| 2021-03-06 13:30:00 | Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene. | 33302512 |
| 2021-01-16 15:58:00 | Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations. | 32239196 |
| 2021-01-09 13:25:00 | Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy. | 31519547 |
| 2020-12-12 13:25:00 | Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies. | 32111077 |
| Type | IDs |
|---|---|
| Synonymous | ARB, BEST, BMD, Best1V1Delta2, RP50, TU15B, VMD2 |
| Gene |
UniProtKB-ID:
BEST1_HUMAN,
A0A0S2Z579_HUMAN,
B7Z1N8_HUMAN,
A0A0S2Z4M4_HUMAN,
B7Z375_HUMAN
UniprotKB:
O76090,
A0A0S2Z579,
B7Z1N8,
A0A0S2Z4M4,
B7Z375
UniParc:
UPI0001914CB8,
UPI0000232791,
UPI0000074164,
UPI0000138985,
UPI0001914D9C,
UPI0001914AC6
EMBL:
AK293701,
AF073491,
KU178390,
AF073499,
AF073497,
AF073493,
BC015220,
KU178391,
AK289681,
AK301392,
AF057169,
AP003733,
AF073498,
AF057170,
AK295998,
AF073494,
BC041664,
AF073496,
AF073492,
CH471076,
AF073495,
AK295580,
AY515704,
AF073501,
AF073500
Ensembl:
ENSG00000167995
KO:
hsa:7439
|
| Nucleutide sequences |
EMBL-CDS:
EAW73982.1,
AAH41664.1,
AAC33766.1,
EAW73985.1,
BAF82370.1,
AAR99654.1,
BAH12234.1,
AAH15220.1,
AAC64343.1,
AAC64926.1,
AAC64344.1,
BAH13472.1,
ALQ33849.1,
BAH11574.1,
ALQ33848.1,
EAW73988.1,
BAH12111.1
Gene_ORFName:
hCG_40845
Ensembl_TRS:
ENST00000449131,
ENST00000378043,
ENST00000526988
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000399709,
ENSP00000367282,
ENSP00000433195
RefSeq:
NP_004174.1,
NP_001350520.1,
XP_005274273.1,
NP_001287715.1,
XP_011543532.1,
XP_016873719.1,
NP_001287716.1,
NP_001132915.1,
NP_001350521.1,
XP_005274278.1,
NP_001350522.1,
XP_005274276.1,
XP_011543531.1,
XP_005274272.1,
XP_005274267.1,
XP_011543535.1
|
| Others |
UniRef100:
UniRef100_A0A0C4DGE9,
UniRef100_O76090-4,
UniRef100_O76090,
UniRef100_B7Z375
UniRef90:
UniRef90_B7Z375,
UniRef90_O76090-4,
UniRef90_F7IFS0,
UniRef90_O76090
UniRef50:
UniRef50_F7IFS0,
UniRef50_A0A2K6TSN0,
UniRef50_O76090
UniGene:
Hs.524910,
Hs.712676
CCDS:
CCDS44623.1,
CCDS31580.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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