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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96EQ8: Variant p.Met112Ile

E3 ubiquitin-protein ligase RNF125
Gene: RNF125
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Variant information Variant position: help 112 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 Methionine (M) to Isoleucine (I) at position 112 (M112I, p.Met112Ile). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 TNORS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 112 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 232 The length of the canonical sequence.
Location on the sequence: help RMKSEYKNCAECDTLVCLSE M RAHIRTCQKYIDKYGPLQEL 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                         RMKSEYKNCAECDTLVCLSEMRAHIRTCQKYIDKYGPLQEL

Mouse                         RMKSEYQNCAECGTLVCLSDMRAHIRTCEKYIDKYGPLLEL
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 – 232 E3 ubiquitin-protein ligase RNF125
Zinc finger 100 – 119 C2HC RNF-type
Region 109 – 113 Interaction with the RING-type zinc finger
Binding site 100 – 100
Binding site 103 – 103
Binding site 115 – 115
Binding site 119 – 119
Mutagenesis 109 – 113 LSEMR -> ASEAA. Abolished E3 ubiquitin-protein ligase activity in vitro.
Helix 112 – 118



Literature citations
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J.; Mansilla A.; Valencia M.; Martinez-Glez V.; Romanelli V.; Arias P.; Castrejon N.; Poletta F.; Guillen-Navarro E.; Gordo G.; Mansilla E.; Garcia-Santiago F.; Gonzalez-Casado I.; Vallespin E.; Palomares M.; Mori M.A.; Santos-Simarro F.; Garcia-Minaur S.; Fernandez L.; Mena R.; Benito-Sanz S.; del Pozo A.; Silla J.C.; Ibanez K.; Lopez-Granados E.; Martin-Trujillo A.; Montaner D.; Heath K.E.; Campos-Barros A.; Dopazo J.; Nevado J.; Monk D.; Ruiz-Perez V.L.; Lapunzina P.;
Hum. Mutat. 35:1436-1441(2014)
Cited for: INVOLVEMENT IN TNORS; VARIANTS TNORS ILE-112; LEU-163 AND CYS-174;
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.