PDB ID 2E5A CHAINA
Protein nameLIPOYLTRANSFERASE 1
Uniprot Accession O46419
The number of similar proteins 1
The number of binding states 1
The number of binding partners 0
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
2E5A (CHAIN: A)
1 Monomeric state
Downdload
Format:
Molecule viewer
#binding
partners
  0
Sequence information
1  TVKSGLILQS   ISNDVYHNLA   VEDWIHDHMN   LEGKPVLFLW   RNSPTVVIGR   50
51  HQNPWQECNL   NLMREEGVKL   ARRRSGGGTV   YHDMGNINLT   FFTTKKKYDR   100
101  MENLKLVVRA   LKAVHPHLDV   QATKRFDLLL   DGQFKISGTA   SKIGRNAAYH   150
151  HCTLLCGTDG   TFLSSLLKSP   YQGIRSNATA   STPALVKNLM   EKDPTLTCEV   200
201  VINAVATEYA   TSHQIDNHIH   LINPTDETVF   PGINSKAIEL   QTWEWIYGKT   250
251  PKFSVDTSFT   VLHEQSHVEI   KVFIDVKNGR   IEVCNIEAPD   HWLPLEICDQ   300
301  LNSSLIGSKF   SPIETTVLTS   ILHRTYPGDD   ELHSKWNILC   EKIKGIM    350
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
72_ARG GLY ClinVar rs137973334 Pathogenic Lipoyltransferase 1 deficiency [MedGen:C4225379, OMIM:616299, Orphanet:ORPHA401862]
153_THR ALA ClinVar rs786205156 Pathogenic Lipoyltransferase 1 deficiency [MedGen:C4225379, OMIM:616299, Orphanet:ORPHA401862]
266_SER UNK ClinVar rs137891647 Pathogenic Lipoyltransferase 1 deficiency [MedGen:C4225379, OMIM:616299, Orphanet:ORPHA401862]