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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IWV7: Variant p.Gly1279Ser

E3 ubiquitin-protein ligase UBR1
Gene: UBR1
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Variant information Variant position: help 1279 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 Glycine (G) to Serine (S) at position 1279 (G1279S, p.Gly1279Ser). 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 glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 JBS. Any additional useful information about the variant.


Sequence information Variant position: help 1279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1749 The length of the canonical sequence.
Location on the sequence: help IFFNQGMGDSTLEFHSILSF G VESSIKYSNSIKEMVILFAT 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                         IFFNQ----------------------------GMGDSTLEFHSILSFGVESSIKYSNSIKEMVI---LFAT

Mouse                         VLFNQ----------------------------GMGDSTFE

Caenorhabditis elegans        SLLDLEKLSKDPDTANTSAGVLQFGAMEMSSATHMPASAES

Drosophila                    NILRL------------------------SGVVGGLAQFER

Baker's yeast                 KRANF--------SHKDVSLILSVHWANTISMLEIASRLEK

Fission yeast                 DVLQH----------------------------TLRDSLKD
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 2 – 1749 E3 ubiquitin-protein ligase UBR1
Alternative sequence 804 – 1749 Missing. In isoform 2.



Literature citations
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M.; Mayerle J.; Lerch M.M.; Tagariello A.; Zerres K.; Durie P.R.; Beier M.; Hulskamp G.; Guzman C.; Rehder H.; Beemer F.A.; Hamel B.C.J.; Vanlieferinghen P.; Gershoni-Baruch R.; Vieira M.W.; Dumic M.; Auslender R.; Gil-da-Silva-Lopes V.L.; Steinlicht S.; Rauh M.; Shalev S.A.; Thiel C.; Winterpacht A.; Kwon Y.T.; Varshavsky A.; Reis A.;
Nat. Genet. 37:1345-1350(2005)
Cited for: VARIANTS JBS ARG-136 AND SER-1279; FUNCTION; DISEASE; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; DEVELOPMENTAL STAGE; Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M.; Fiedler A.; Guzman C.; Spranger S.; Addor M.C.; McHeik J.N.; Oltra Benavent M.; Cobben J.M.; Gillis L.A.; Shealy A.G.; Deshpande C.; Bozorgmehr B.; Everman D.B.; Stattin E.L.; Liebelt J.; Keller K.M.; Bertola D.R.; van Karnebeek C.D.; Bergmann C.; Liu Z.; Dueker G.; Rezaei N.; Alkuraya F.S.; Ogur G.; Alrajoudi A.; Venegas-Vega C.A.; Verbeek N.E.; Richmond E.J.; Kirbiyik O.; Ranganath P.; Singh A.; Godbole K.; Ali F.A.; Alves C.; Mayerle J.; Lerch M.M.; Witt H.; Zenker M.;
Hum. Mutat. 35:521-531(2014)
Cited for: VARIANTS JBS LEU-122; PHE-127; ARG-136; ARG-166; ARG-217; ARG-286; PRO-317; 389-ALA--PHE-392 DEL; ASP-563; VAL-660 DEL; PRO-700; CYS-754; HIS-754; GLU-1102; GLY-1242; SER-1279; LEU-1426; PHE-1427; PRO-1431 AND ARG-1661;
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.