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UniProtKB/Swiss-Prot P04156: Variant p.Arg208His

Major prion protein
Gene: PRNP
Variant information

Variant position:  208
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 Arginine (R) to Histidine (H) at position 208 (R208H, p.Arg208His).
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 large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  208
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                       TVTTTTK--------GENFTETDV--KMMERVVEQMCITQY


Rhesus macaque                TVTTTTK--------GENFTETDV--KMMERVVEQMCITQY

Chimpanzee                    TVTTTTK--------GENFTETDV--KMMERVVEQMCITQY

Mouse                         TVTTTTK--------GENFTETDV--KMMERVVEQMCVTQY

Rat                           TVTTTTK--------GENFTETDV--KMMERVVEQMCVTQY

Pig                           TVTTTTK--------GENFTETDV--KMIERVVEQMCITQY

Bovine                        TVTTTTK--------GENFTETDI--KMMERVVEQMCITQY

Rabbit                        TVTTTTK--------GENFTETDI--KIMERVVEQMCITQY

Goat                          TVTTTTK--------GENFTETDI--KIMERVVEQMCITQY

Sheep                         TVTTTTK--------GENFTETDI--KIMERVVEQMCITQY

Cat                           TVTTTTK--------GENFTETDM--KIMERVVEQMCVTQY


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
Glycosylation 197 – 197 N-linked (GlcNAc...) asparagine
Disulfide bond 179 – 214

Literature citations

Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
Mastrianni J.A.; Iannicola C.; Myers R.M.; Dearmond S.; Prusiner S.B.;
Neurology 47:1305-1312(1996)
Cited for: VARIANT CJD HIS-208;

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.