| Type | Description |
|---|---|
| Definition | branched chain keto acid dehydrogenase E1, alpha polypeptide |
| Date | Results | Publications |
|---|---|---|
| 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 |
| 2018-10-06 11:24:00 | pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease | 29673582 |
| 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 BCKDHA were identified in MSUD patients. | 26453840 |
| Type | IDs |
|---|---|
| Synonymous | BCKDE1A, MSU, MSUD1, OVD1A |
| Gene |
UniProtKB-ID:
ODBA_HUMAN,
A0A024R0K3_HUMAN,
Q59EI3_HUMAN
UniprotKB:
P12694,
A0A024R0K3,
Q59EI3
UniParc:
UPI0000130BC4,
UPI00017A77A9,
UPI00004F6E51
EMBL:
M22221,
CH471126,
J04474,
BC023983,
AB209828,
AK298188,
BC008933,
Z14093,
AC011462,
AH003707,
BC007878,
AH003771
Ensembl:
ENSG00000248098
KO:
hsa:593
|
| Nucleutide sequences |
EMBL-CDS:
AAA35590.1,
AAH08933.1,
BAG60459.1,
CAA78475.1,
AAB59549.1,
AAB19268.2,
AAH23983.1,
AAB20222.2,
AAH07878.1,
EAW57039.1,
EAW57040.1,
BAD93065.1
Gene_ORFName:
hCG_22320
Ensembl_TRS:
ENST00000457836,
ENST00000269980
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000269980,
ENSP00000416000
RefSeq:
NP_000700.1,
NP_001158255.1
|
| Others |
UniRef100:
UniRef100_P12694,
UniRef100_Q59EI3
UniRef90:
UniRef90_A0A340XB63,
UniRef90_P12694
UniRef50:
UniRef50_P12694,
UniRef50_P12694-2
UniGene:
Hs.433307
CCDS:
CCDS12581.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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