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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13415: Variant p.Arg105Gln

Origin recognition complex subunit 1
Gene: ORC1
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Variant information Variant position: help 105 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Glutamine (Q) at position 105 (R105Q, p.Arg105Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MGORS1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 105 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 861 The length of the canonical sequence.
Location on the sequence: help RVQWFVRFCEVPACKRHLLG R KPGAQEIFWYDYPACDSNIN 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RVQWF-VR---FCEVPACKRHLLGRKPGAQEIFWYDYPA----CDSNIN

Mouse                         RVQWF-VR---FLEIPVSKRHLLGRSPPAQEIFWYDCSD--

Rat                           RVQWF-VR---FCEIPIPKRHLLGRRPSAQEIFWYDCSD--

Bovine                        RVQWF-IR---FCEVPVCKQHLLGRKPGTQEIFWYDNPT--

Drosophila                    IVQWY--------SWPKAIPHNKYDDDEVAIDFSLEVIEEH

Slime mold                    -------------------RDIVMQPNSTDEE---------

Baker's yeast                 YLRWFEVNPLAHYRQFNPDANILNRPLNYYNKLFSETANKN

Fission yeast                 EAIWYSRA---YAKRMEIKPEYLLPDRHINEVYVS------
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 861 Origin recognition complex subunit 1
Domain 45 – 171 BAH
Site 94 – 94 Histone H4K20me2 binding



Literature citations
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Bicknell L.S.; Walker S.; Klingseisen A.; Stiff T.; Leitch A.; Kerzendorfer C.; Martin C.A.; Yeyati P.; Al Sanna N.; Bober M.; Johnson D.; Wise C.; Jackson A.P.; O'Driscoll M.; Jeggo P.A.;
Nat. Genet. 43:350-355(2011)
Cited for: VARIANTS MGORS1 SER-89; GLN-105; GLY-127 AND GLN-720; Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Bicknell L.S.; Bongers E.M.; Leitch A.; Brown S.; Schoots J.; Harley M.E.; Aftimos S.; Al-Aama J.Y.; Bober M.; Brown P.A.; van Bokhoven H.; Dean J.; Edrees A.Y.; Feingold M.; Fryer A.; Hoefsloot L.H.; Kau N.; Knoers N.V.; Mackenzie J.; Opitz J.M.; Sarda P.; Ross A.; Temple I.K.; Toutain A.; Wise C.A.; Wright M.; Jackson A.P.;
Nat. Genet. 43:356-359(2011)
Cited for: VARIANT MGORS1 GLN-105; 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: VARIANTS MGORS1 GLN-105 AND TRP-666;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.