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UniProtKB/Swiss-Prot Q8IWV7: Variant p.Gln1102Glu

E3 ubiquitin-protein ligase UBR1
Gene: UBR1
Variant information

Variant position:  1102
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glutamine (Q) to Glutamate (E) at position 1102 (Q1102E, p.Gln1102Glu).
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:  Change from medium size and polar (Q) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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:  In JBS; strong decrease in activity in a yeast-based assay.
Any additional useful information about the variant.

Sequence information

Variant position:  1102
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1749
The length of the canonical 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.


Mouse                         LGPKR-GPAVTEKEVLTC-ILCQEEQ-------EVKLENNA

Caenorhabditis elegans        IGANKWHAELVKPRTLTC-ILCQEDE------IIAPQQGKP

Drosophila                    LGPDR-KFYHGTDDTFKC-ILCFENC-------AISRGGRQ

Baker's yeast                 -------------EDFTC-ALCQDSSSTDFFVIPAYHDHSP


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.

Chain 2 – 1749 E3 ubiquitin-protein ligase UBR1
Zinc finger 1098 – 1201 RING-type; atypical
Alternative sequence 804 – 1749 Missing. In isoform 2.

Literature citations

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
Hwang C.S.; Sukalo M.; Batygin O.; Addor M.C.; Brunner H.; Aytes A.P.; Mayerle J.; Song H.K.; Varshavsky A.; Zenker M.;
PLoS ONE 6:E24925-E24925(2011)

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.