PDB ID 2II4     CHAIN A
Protein name Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex
Uniprot Accession P11181
The number of similar proteins 32
The number of binding states 3
The number of binding partners 1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2II4 (CHAIN: A)
1 P11181   P11181   P11181  
2 Monomeric state
3 P11181   P11181  

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   GHAEIMPPPP   KPKDRTIPIP   ISKPPVFIGK   DRTEPVKGFH   KAMVKTMSAA   50
51   LKIPHFGYCD   EVDLTELVKL   REELKPIAFA   RGIKLSFMPF   FLKAASLGLL   100
101   QFPILNASVD   ENCQNITYKA   SHNIGIAMDT   EQGLIVPNVK   NVQIRSIFEI   150
151   ATELNRLQKL   GSAGQLSTND   LIGGTFTLSN   IGSIGGTYAK   PVILPPEVAI   200
201   GALGTIKALP   RFNEKGEVCK   AQIMNVSWSA   DHRIIDGATV   SRFSNLWKSY   250
251   LENPAFMLLD   LK         300

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
213_PRO THR ClinVar
chr1:100680492 		rs1310427311
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
215_PHE CYS ClinVar
chr1:100680485 		rs121964999
Pathogenic/Likely pathogenic - not provided|Maple syrup urine disease|See cases|Maple syrup urine disease type 2 [MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511||MONDO:MONDO:0023693,MedGen:C1855371,OMIM:620699]
215_PHE CYS gnomAD
chr1:100680485 		rs121964999
- 0.000111355 -
219_ASP GLU 8.3kJPN
chr1:100680472 		-
- 0.001 -
230_ARG TER ClinVar
chr1:100680441 		rs398123675
Pathogenic - not provided|Maple syrup urine disease [MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
230_ARG GLN ClinVar
chr1:100680440 		-
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
233_LEU TER ClinVar
chr1:100680431 		-
Pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
240_ARG CYS ClinVar
chr1:100680411 		rs185492864
Pathogenic/Likely pathogenic - not provided|Maple syrup urine disease [MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
240_ARG CYS gnomAD
chr1:100680411 		rs185492864
- 0.000513008 -
241_GLY TER ClinVar
chr1:100680408 		-
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
245_SER PRO ClinVar
chr1:100680396 		rs2100797134
Pathogenic - Maple syrup urine disease type 2|Maple syrup urine disease [MONDO:MONDO:0023693,MedGen:C1855371,OMIM:620699|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
252_LYS ASN ClinVar
chr1:100680373 		rs398123676
Pathogenic/Likely pathogenic - Maple syrup urine disease|not provided|Maple syrup urine disease type 2 [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MedGen:C3661900|MONDO:MONDO:0023693,MedGen:C1855371,OMIM:620699]
260_GLN TER ClinVar
chr1:100676306 		rs1662088383
Pathogenic/Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
264_LEU ARG 8.3kJPN
chr1:100676293 		-
- 0.0001 -
284_GLY ARG ClinVar
chr1:100672177 		rs869312132
Pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
290_GLU GLN 8.3kJPN
chr1:100672159 		rs142160613
- 0.0038 -
301_VAL ILE 8.3kJPN
chr1:100672126 		-
- 0.0001 -
310_ALA THR gnomAD
chr1:100672099 		rs777868718
- 0.000111337 -
317_GLN TER ClinVar
chr1:100672078 		-
Pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
323_SER GLY gnomAD
chr1:100672060 		rs12021720
- 0.917429 -
334_THR ILE ClinVar
chr1:100672026 		rs1661797765
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
338_SER CYS ClinVar
chr1:100672014 		rs2100779875
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
342_SER TER ClinVar
chr1:100672002 		rs1661796496
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
350_PRO LEU ClinVar
chr1:100671835 		rs2100779419
Pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
352_ILE THR ClinVar
chr1:100671829 		-
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
359_ILE THR ClinVar
chr1:100671808 		-
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
364_SER TER ClinVar
chr1:100671793 		-
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
368_ILE SER 8.3kJPN
chr1:100661974 		-
- 0.0023 -
370_ARG TER ClinVar
chr1:100661969 		rs398123660
Pathogenic/Likely pathogenic - Maple syrup urine disease|not provided [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MedGen:C3661900]
381_GLN TER ClinVar
chr1:100661936 		rs1276927916
Pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
383_MET THR 8.3kJPN
chr1:100661929 		rs191644614
- 0.0001 -
391_HIS ARG ClinVar
chr1:100661905 		rs121965002
Pathogenic - Maple syrup urine disease type 2 [MONDO:MONDO:0023693,MedGen:C1855371,OMIM:620699]
401_ARG CYS ClinVar
chr1:100661876 		rs765257706
Likely pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
401_ARG PRO ClinVar
chr1:100661875 		rs750594890
Pathogenic - Maple syrup urine disease [MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511]
412_ASN SER gnomAD
chr1:100661842 		rs75525811
- 0.00198226 -
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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.