| Type | Description |
|---|---|
| Definition | branched chain keto acid dehydrogenase E1 subunit beta |
| Date | Results | Publications |
|---|---|---|
| 2019-03-30 10:45:00 | Two heterozygous mutations c.284G>C (p.Gly95Ala) and c.853C>T (p.Arg285*) of the BCKDHB gene were associated with a pedigree affected with maple syrup urine disease. | 30298494 |
| 2019-02-09 10:20:00 | Six different novel genetic variants were validated in BCKDHB gene and BCKDHA gene, including c.523 T > C, c.659delA, c.550delT, c.863G > A and two gross deletions | 29307017 |
| 2018-09-08 11:09:00 | Data suggest that the following genetic modifications are involved in patients with maple syrup urine disease in Iran: (1) mutation in BCKDHA (branched chain keto acid dehydrogenase E1 alpha); (2) mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta); (3) mutation in DBT (dihydrolipoamide branched chain transacylase E2; one patient). | 29306928 |
| 2017-07-01 12:34:00 | we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants | 26830710 |
| 2016-09-17 11:34:00 | Five novel mutations in BCKDHB were identified in MSUD patients. | 26453840 |
| Type | IDs |
|---|---|
| Synonymous | BCKDE1B, BCKDH E1-beta, E1B |
| Gene |
UniProtKB-ID:
ODBB_HUMAN,
A0A140VKB3_HUMAN,
B7ZB80_HUMAN,
B4E2N3_HUMAN
UniprotKB:
P21953,
A0A140VKB3,
B7ZB80,
B4E2N3
UniParc:
UPI00017A861A,
UPI0000001C97,
UPI0000140882,
UPI0000E21054
EMBL:
AL391595,
U50708,
D90391,
X52446,
M55575,
AK316545,
CH471051,
BC034481,
BC040139,
HM005653,
AK289977,
BT020063,
AL049696,
AK304353
Ensembl:
ENSG00000083123
KO:
hsa:594
|
| Nucleutide sequences |
EMBL-CDS:
AAA51812.1,
BAA14389.1,
CAA36685.1,
AAV38866.1,
EAW48697.1,
BAF82666.1,
AAH34481.1,
EAW48698.1,
EAW48696.1,
AAH40139.1,
AAB16763.1,
AEE61250.1,
BAH14916.1,
BAG65195.1
Ensembl_TRS:
ENST00000320393,
ENST00000356489,
ENST00000369760
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000318351,
ENSP00000348880,
ENSP00000358775
RefSeq:
NP_898871.1,
XP_011534325.1,
NP_000047.1,
NP_001305904.1,
XP_011534326.1,
XP_005248813.1,
XP_011534327.1
|
| Others |
UniRef100:
UniRef100_B4E2N3,
UniRef100_P21953
UniRef90:
UniRef90_P21953,
UniRef90_K7G7W9
UniRef50:
UniRef50_P21953,
UniRef50_K7G7W9
UniGene:
Hs.654441
CCDS:
CCDS4994.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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