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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08670: Variant p.Glu151Lys

Vimentin
Gene: VIM
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Variant information Variant position: help 151 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 Glutamate (E) to Lysine (K) at position 151 (E151K, p.Glu151Lys). 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 medium size and acidic (E) to large size and basic (K) 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 CTRCT30; the mutation increases the proteasome activity in transfected cells; causes also a severe kinetic defect in vimentin assembly both in vitro and in vivo. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 151 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 466 The length of the canonical sequence.
Location on the sequence: help LLAELEQLKGQGKSRLGDLY E EEMRELRRQVDQLTNDKARV 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                         LLAELEQLKGQGKSRLGDLYEEEMRELRRQVDQLTNDKARV

Chimpanzee                    LLAELEQLKGQGKSRLGDLYEEEMRELRRQVDQLTNDKARV

Mouse                         LLAELEQLKGQGKSRLGDLYEEEMRELRRQVDQLTNDKARV

Rat                           LLAELEQLKGQGKSRLGDLYEEEMRELRRQVDQLTNDKARV

Pig                           LLAELEQLKGQGKSRLGDLYEEEMRELRRQVDQLTNDKARV

Bovine                        LLAELEQLKGQGKSRLGDLYEEEMRELRRQVDQLTNDKARV

Chicken                       LLAELEQLKGKGTSRLGDLYEEEMRDVRRQVDQLTNDKARV
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 – 466 Vimentin
Domain 103 – 411 IF rod
Region 132 – 153 Linker 1
Modified residue 139 – 139 N6-acetyllysine; alternate
Modified residue 144 – 144 Phosphoserine
Modified residue 168 – 168 N6-acetyllysine
Cross 139 – 139 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate



Literature citations
Dominant cataract formation in association with a vimentin assembly disrupting mutation.
Muller M.; Bhattacharya S.S.; Moore T.; Prescott Q.; Wedig T.; Herrmann H.; Magin T.M.;
Hum. Mol. Genet. 18:1052-1057(2009)
Cited for: VARIANT CTRCT30 LYS-151; CHARACTERIZATION OF VARIANT CTRCT30 LYS-151;
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.