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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04156: Variant p.Gln212Pro

Major prion protein
Gene: PRNP
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Variant information Variant position: help 212 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 Glutamine (Q) to Proline (P) at position 212 (Q212P, p.Gln212Pro). 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 polar (Q) to medium size and hydrophobic (P) 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 GSD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 253 The length of the canonical sequence.
Location on the sequence: help TTKGENFTETDVKMMERVVE Q MCITQYERESQAYYQRGSSM 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                         TTK--------GENFTETDV--KMMERVVEQMCITQYERESQAYYQ--RGSSM

Gorilla                       TTK--------GENFTETDV--KMMERVVEQMCITQYERES

                              TTK--------GENFTETDI--KMMERVVEQMCITQYQRES

Rhesus macaque                TTK--------GENFTETDV--KMMERVVEQMCITQYEKES

Chimpanzee                    TTK--------GENFTETDV--KMMERVVEQMCITQYERES

Mouse                         TTK--------GENFTETDV--KMMERVVEQMCVTQYQKES

Rat                           TTK--------GENFTETDV--KMMERVVEQMCVTQYQKES

Pig                           TTK--------GENFTETDV--KMIERVVEQMCITQYQKEY

Bovine                        TTK--------GENFTETDI--KMMERVVEQMCITQYQRES

Rabbit                        TTK--------GENFTETDI--KIMERVVEQMCITQYQQES

Goat                          TTK--------GENFTETDI--KIMERVVEQMCITQYQRES

Sheep                         TTK--------GENFTETDI--KIMERVVEQMCITQYQRES

Cat                           TTK--------GENFTETDM--KIMERVVEQMCVTQYQKES

Chicken                       AAKKNTSEAVAAANQTEVEMENKVVTKVIREMCVQQYRE--
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 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
Beta strand 212 – 215



Literature citations
Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity.
Piccardo P.; Dlouhy S.R.; Lievens P.M.; Young K.; Bird T.D.; Nochlin D.; Dickson D.W.; Vinters H.V.; Zimmerman T.R.; Mackenzie I.R.; Kish S.J.; Ang L.C.; De Carli C.; Pocchiari M.; Brown P.; Gibbs C.J. Jr.; Gajdusek D.C.; Bugiani O.; Ironside J.; Tagliavini F.; Ghetti B.;
J. Neuropathol. Exp. Neurol. 57:979-988(1998)
Cited for: VARIANTS GSD ASN-202 AND PRO-212;
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.