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UniProtKB/Swiss-Prot P04156: Variant p.Glu211Gln

Major prion protein
Gene: PRNP
Variant information

Variant position:  211
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glutamate (E) to Glutamine (Q) at position 211 (E211Q, p.Glu211Gln).
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 acidic (E) to medium size and polar (Q)
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 CJD.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  211
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  253
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.


Gorilla                       TTTK--------GENFTETDV--KMMERVVEQMCITQYERE


Rhesus macaque                TTTK--------GENFTETDV--KMMERVVEQMCITQYEKE

Chimpanzee                    TTTK--------GENFTETDV--KMMERVVEQMCITQYERE

Mouse                         TTTK--------GENFTETDV--KMMERVVEQMCVTQYQKE

Rat                           TTTK--------GENFTETDV--KMMERVVEQMCVTQYQKE

Pig                           TTTK--------GENFTETDV--KMIERVVEQMCITQYQKE

Bovine                        TTTK--------GENFTETDI--KMMERVVEQMCITQYQRE

Rabbit                        TTTK--------GENFTETDI--KIMERVVEQMCITQYQQE

Goat                          TTTK--------GENFTETDI--KIMERVVEQMCITQYQRE

Sheep                         TTTK--------GENFTETDI--KIMERVVEQMCITQYQRE

Cat                           TTTK--------GENFTETDM--KIMERVVEQMCVTQYQKE


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 23 – 230 Major prion protein
Region 23 – 230 Interaction with GRB2, ERI3 and SYN1
Lipidation 230 – 230 GPI-anchor amidated serine
Glycosylation 197 – 197 N-linked (GlcNAc...) asparagine
Disulfide bond 179 – 214

Literature citations

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
Peoc'h K.; Manivet P.; Beaudry P.; Attane F.; Besson G.; Didier H.; Delasnerie-Laupretre N.; Laplanche J.-L.;
Hum. Mutat. 15:482-482(2000)
Cited for: VARIANTS CJD LYS-196; ILE-203 AND GLN-211;

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.