UniProtKB/Swiss-Prot P04156: Variant p.Val203Ile

Major prion protein
Gene: PRNP
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Variant information Variant position:

203 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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:

From Valine (V) to Isoleucine (I) at position 203 (V203I, p.Val203Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs776593792 [ dbSNP | Ensembl ]

Sequence information Variant position:

203 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:

TIKQHTVTTTTKGENFTETD V KMMERVVEQMCITQYERESQ 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                         TIKQHTVTTTTK--------GENFTETDV--KMMERVVEQMCITQYERESQ

Gorilla                       TIKQHTVTTTTK--------GENFTETDV--KMMERVVEQM

                              TVKQHTV-TTTK--------GENFTETDI--KMMERVVEQM

Rhesus macaque                TIKQHTVTTTTK--------GENFTETDV--KMMERVVEQM

Chimpanzee                    TIKQHTVTTTTK--------GENFTETDV--KMMERVVEQM

Mouse                         TIKQHTVTTTTK--------GENFTETDV--KMMERVVEQM

Rat                           TIKQHTVTTTTK--------GENFTETDV--KMMERVVEQM

Pig                           TVKQHTVTTTTK--------GENFTETDV--KMIERVVEQM

Bovine                        TVKEHTVTTTTK--------GENFTETDI--KMMERVVEQM

Rabbit                        TVKQHTVTTTTK--------GENFTETDI--KIMERVVEQM

Goat                          TVKQHTVTTTTK--------GENFTETDI--KIMERVVEQM

Sheep                         TVKQHTVTTTTK--------GENFTETDI--KIMERVVEQM

Cat                           TVKQHTVTTTTK--------GENFTETDM--KIMERVVEQM

Chicken                       TVTEYSIGPAAKKNTSEAVAAANQTEVEMENKVVTKVIREM

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.

Type	Positions	Description
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
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.