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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04156: Variant p.Pro102Leu

Major prion protein
Gene: PRNP
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Variant information Variant position: help 102 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 Proline (P) to Leucine (L) at position 102 (P102L, p.Pro102Leu). 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 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: help -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: help In GSD and early-onset dementia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 102 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 GQPHGGGWGQGGGTHSQWNK P SKPKTNMKHMAGAAAAGAVV 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                         GQPH-GG--GWGQG-----GGTHSQWNKPSKPKTNMKHMAGAAAAGAVV

Gorilla                       GQPH-GG--GWGQG-----GGTHSQWNKPSKPKTNMKHMAG

                              GQPHGGG--GWGQ------GGTHSQWNKPSKPKTNMKHVAG

Rhesus macaque                GQPH-GG--GWGQG-----GGTHNQWHKPSKPKTSMKHMAG

Chimpanzee                    GQPH-GG--GWGQG-----GGTHSQWNKPSKPKTNMKHMAG

Mouse                         GQPH-GG--GWGQG-----GGTHNQWNKPSKPKTNLKHVAG

Rat                           GQPH-GG--GWSQG-----GGTHNQWNKPSKPKTNLKHVAG

Pig                           GQPHGGG--GWGQG-----GGSHGQWNKPSKPKTNMKHVAG

Bovine                        GQPHGGG--GWGQ------GGTHGQWNKPSKPKTNMKHVAG

Rabbit                        GQPH-GG--GWGQ------GGTHNQWGKPSKPKTSMKHVAG

Goat                          GQPHGGG--GWGQ------GGSHSQWNKPSKPKTNMKHVAG

Sheep                         GQPHGGG--GWGQ------GGSHSQWNKPSKPKTNMKHVAG

Cat                           GQPHGGG--GWGQ------GGSHSQWNKPSKPKTNMKHMAG

Chicken                       GYPHNPGYPGWGQGYNPSSGGSYHNQKPWKPPKTNFKHVAG
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
Region 26 – 108 Disordered
Binding site 85 – 85
Binding site 86 – 86
Binding site 87 – 87



Literature citations
Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome.
Hsiao K.; Baker H.F.; Crow T.J.; Poulter M.; Owen F.; Terwilliger J.D.; Westaway D.; Ott J.; Pursiner S.B.;
Nature 338:342-345(1989)
Cited for: VARIANT GSD LEU-102; Pro-->Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome.
Doh-Ura K.; Tateishi J.; Sasaki H.; Kitamoto T.; Sakaki Y.;
Biochem. Biophys. Res. Commun. 163:974-979(1989)
Cited for: VARIANTS LEU-102; VAL-117 AND VAL-129; Gerstmann-Straussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
Young K.; Jones C.K.; Piccardo P.; Lazzarini A.; Golbe L.I.; Zimmerman T.R.; Dickson D.W.; McLachlan D.C.; St George-Hyslop P.H.; Lennox A.;
Neurology 45:1127-1134(1995)
Cited for: VARIANT GSD LEU-102; Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Scheinker disease (PrP-P102L mutation).
Barbanti P.; Fabbrini G.; Salvatore M.; Petraroli R.; Cardone F.; Maras B.; Equestre M.; Macchi G.; Lenzi G.L.; Pocchiari M.;
Neurology 47:734-741(1996)
Cited for: VARIANT GSD LEU-102; VARIANT LYS-219; High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
Finckh U.; Mueller-Thomsen T.; Mann U.; Eggers C.; Marksteiner J.; Meins W.; Binetti G.; Alberici A.; Hock C.; Nitsch R.M.; Gal A.;
Am. J. Hum. Genet. 66:110-117(2000)
Cited for: VARIANTS EARLY-ONSET DEMENTIA LEU-102; ALA-183 AND LYS-188;
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.