PDB ID 1EKV     CHAIN A
Protein name BRANCHED CHAIN AMINO ACID AMINOTRANSFERASE (MITOCHONDRIAL)
Uniprot Accession O15382
The number of similar proteins 57
The number of binding states 2
The number of binding partners 1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
1EKV (CHAIN: A)
1 O15382  
2 Monomeric state

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   ASSSFKAADL   QLEMTQKPHK   KPGPGEPLVF   GKTFTDHMLM   VEWNDKGWGQ   50
51   PRIQPFQNLT   LHPASSSLHY   SLQLFEGMKA   FKGKDQQVRL   FRPWLNMDRM   100
101   LRSAMRLCLP   SFDKLELLEC   IRRLIEVDKD   WVPDAAGTSL   YVRPVLIGNE   150
151   PSLGVSQPRR   ALLFVILCPV   GAYFPGGSVT   PVSLLADPAF   IRAWVGGVGN   200
201   YKLGGNYGPT   VLVQQEALKR   GCEQVLWLYG   PDHQLTEVGT   MNIFVYWTHE   250
251   DGVLELVTPP   LNGVILPGVV   RQSLLDMAQT   WGEFRVVERT   ITMKQLLRAL   300
301   EEGRVREVFG   SGTACQVCPV   HRILYKDRNL   HIPTMENGPE   LILRFQKELK   350
351   EIQYGIRAHE   WMFPV         400

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
19_HIS ARG gnomAD
chr19:49309937
rs201148940
- 0.00036628 -
33_THR ILE 8.3kJPN
chr19:49309895
-
- 0.0001 -
36_ASP ASN gnomAD
chr19:49309887
rs768560820
- 0.00024257 -
47_GLY SER gnomAD
chr19:49309854
rs142099967
- 0.000341967 -
52_ARG TER 8.3kJPN
chr19:49309839
rs753025021
- 0.0001 -
85_ASP ASN gnomAD
chr19:49303521
rs144152530
- 0.000171751 -
99_ARG GLN 8.3kJPN
chr19:49303478
rs1234657138
- 0.0001 -
140_LEU ILE gnomAD
chr19:49303270
rs377598825
- 0.000194114 -
143_ARG GLN VAR_084533 rs749866079
LP/P - Hypervalinemia and hyperleucine-isoleucinemia (HVLI) [MIM:618850]
143_ARG GLN ClinVar
chr19:49303260
rs749866079
Pathogenic - Hypervalinemia and hyperleucine-isoleucinemia [MONDO:MONDO:0100058,MedGen:C5394277,OMIM:618850]
146_LEU HIS 8.3kJPN
chr19:49303251
-
- 0.0001 -
147_ILE THR 8.3kJPN
chr19:49303248
-
- 0.0001 -
159_THR ARG gnomAD
chr19:49303070
rs11548193
- 0.142656 -
173_TYR TER ClinVar
chr19:49303027
-
Pathogenic - not provided [MedGen:C3661900]
174_PHE LEU 8.3kJPN
chr19:49303026
-
- 0.0002 -
188_PRO ARG gnomAD
chr19:49302983
rs150646107
- 0.000299974 -
232_ASP ASN 8.3kJPN
chr19:49300511
rs147444595
- 0.0001 -
233_HIS TYR 8.3kJPN
chr19:49300508
rs764489541
- 0.0005 -
237_GLU LYS VAR_084534 rs767653663
LP/P - Hypervalinemia and hyperleucine-isoleucinemia (HVLI) [MIM:618850]
237_GLU LYS ClinVar
chr19:49300496
rs767653663
Pathogenic - Hypervalinemia and hyperleucine-isoleucinemia [MONDO:MONDO:0100058,MedGen:C5394277,OMIM:618850]
285_ARG TRP 8.3kJPN
chr19:49299966
rs1213912704
- 0.0001 -
291_ILE VAL 8.3kJPN
chr19:49299948
-
- 0.0001 -
292_THR SER gnomAD
chr19:49299944
rs200604464
- 0.000116243 -
295_GLN HIS 8.3kJPN
chr19:49299934
-
- 0.0001 -
301_GLU ASP 8.3kJPN
chr19:49299916
-
- 0.0001 -
304_ARG CYS 8.3kJPN
chr19:49299909
rs756358618
- 0.0003 -
306_ARG TRP gnomAD
chr19:49299903
rs149621078
- 0.000619108 -
306_ARG TRP 8.3kJPN
chr19:49299903
rs149621078
- 0.0001 -
308_VAL ALA gnomAD
chr19:49299896
rs368301773
- 0.000167616 -
308_VAL ALA 8.3kJPN
chr19:49299896
rs368301773
- 0.0004 -
328_ARG GLY 8.3kJPN
chr19:49299837
rs1194818729
- 0.0004 -
344_ARG CYS gnomAD
chr19:49299714
rs199999090
- 0.000187017 -
347_LYS GLU gnomAD
chr19:49299705
rs140856269
- 0.000521132 -
356_ILE PHE gnomAD
chr19:49298715
rs145231743
- 0.000322956 -
360_GLU GLY 8.3kJPN
chr19:49298702
rs1329872945
- 0.0001 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.