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UniProtKB/Swiss-Prot P04156: Variant p.Met232Arg

Major prion protein
Gene: PRNP
Variant information

Variant position:  232
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 Methionine (M) to Arginine (R) at position 232 (M232R, p.Met232Arg).
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 hydrophobic (M) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In CJD.
Any additional useful information about the variant.

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



Sequence information

Variant position:  232
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  253
The length of the canonical sequence.

Location on the sequence:   QMCITQYERESQAYYQRGSS  M VLFSSPPVILLISFLIFLIV
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.

Human                         QMCITQYERESQAYY--QRGSSMVLFSSPP--VILLISFLIFLIV

Gorilla                       QMCITQYERESQAYY--QRGSSMVLFSSPP--VILLISFLI

                              QMCITQYQRESEAYY--QRGASVILFSSPP--VILLVSFLI

Rhesus macaque                QMCITQYEKESQAYY--QRGSSMVLFSSPP--VILLISFLI

Chimpanzee                    QMCITQYERESQAYY--QRGSSMVLFSSPP--VILLISFLI

Mouse                         QMCVTQYQKESQAYYDGRRSSSTVLFSSPP--VILLISFLI

Rat                           QMCVTQYQKESQAYYDGRRSSAV-LFSSPP--VILLISFLI

Pig                           QMCITQYQKEYEAYA--QRGASVILFSSPP--VILLISFLL

Bovine                        QMCITQYQRESQAYY--QRGASVILFSSPP--VILLISFLI

Rabbit                        QMCITQYQQESQAAY--QRAAGVLLFSSPP--VILLISFLI

Goat                          QMCITQYQRESQAYY--QRGASVILFSPPP--VILLISFLI

Sheep                         QMCITQYQRESQAYY--QRGASVILFSSPP--VILLISFLI

Cat                           QMCVTQYQKESEAYY--QRRASAILFSSPP--VILLISFLI

Chicken                       EMCVQQYRE-----Y--RLASGIQLHPADTWLAVLLLLLTT

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.

TypePositionsDescription
Propeptide 231 – 253 Removed in mature form
Lipidation 230 – 230 GPI-anchor amidated serine


Literature citations

Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome.
Kitamoto T.; Ohta M.; Doh-Ura K.; Hitoshi S.; Terao Y.; Tateishi J.;
Biochem. Biophys. Res. Commun. 191:709-714(1993)
Cited for: VARIANTS CJD ILE-180 AND ARG-232;

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.