Variant position: 468 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 546 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LQRLERLPE----LARVLRSVFVS---- ERKPALSMEVACARMVGSCCT
Mouse LQRLERLPE----LARVLRNVFVS---- ERKPALTMEVVCA
Xenopus laevis LLMMSRLPE----LARILRNVFVA---- EKKPALTLEVTCS
Baker's yeast FLAMK--------MTQVFDILFSL---- TRGQPYTETYLSS
Fission yeast NLVVHTLAKEKVSFVRIIDLIFVQLSTW PTKRSFSMSEIVT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 546 DNA replication factor Cdt1
451 – 546 Interaction with LRWD1
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Guernsey D.L.; Matsuoka M.; Jiang H.; Evans S.; Macgillivray C.; Nightingale M.; Perry S.; Ferguson M.; LeBlanc M.; Paquette J.; Patry L.; Rideout A.L.; Thomas A.; Orr A.; McMaster C.R.; Michaud J.L.; Deal C.; Langlois S.; Superneau D.W.; Parkash S.; Ludman M.; Skidmore D.L.; Samuels M.E.;
Nat. Genet. 43:360-364(2011)
Cited for: VARIANT MGORS4 LYS-468;
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