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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13563: Variant p.Met800Leu

Polycystin-2
Gene: PKD2
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Variant information Variant position: help 800 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Methionine (M) to Leucine (L) at position 800 (M800L, p.Met800Leu). 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 2 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

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


Sequence information Variant position: help 800 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 968 The length of the canonical sequence.
Location on the sequence: help DDLEKEREDLDLDHSSLPRP M SSRSFPRSLDDSEEDDDEDS 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                         DDLEKEREDLDLDHSSLPRPMSSRSFPRSLDDSEEDDDEDS

Mouse                         DDLEKEREDLDLEHSSLPRPMSSRSFPRSLDDSEEEDDEDS

Bovine                        DDLEKEREDLDLDHSSLPRPMSSRSFPRSLDDSEEEDDDDS

Zebrafish                     DDLEKEREDLDLEHSSLPRPASGRSFSRSQDDSEEDDDEDS

Caenorhabditis elegans        EDIA---------------------------------DEVA

Fission yeast                 -------------------PFSNRN------------DSDS

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 1 – 968 Polycystin-2
Topological domain 676 – 968 Cytoplasmic
Region 764 – 831 Disordered
Modified residue 801 – 801 Phosphoserine
Modified residue 808 – 808 Phosphoserine
Modified residue 812 – 812 Phosphoserine
Alternative sequence 484 – 968 Missing. In isoform 2.
Alternative sequence 647 – 968 Missing. In isoform 4.
Alternative sequence 748 – 841 Missing. In isoform 5.
Mutagenesis 801 – 801 S -> A. Decreases phosphorylation; when associated with A-721; A-812; A-831 and A-943.
Mutagenesis 801 – 801 S -> D. Phosphomimetic mutant. No effect on release of Ca(2+) stores from the endoplasmic reticulum.
Mutagenesis 801 – 801 S -> G. Loss of phosphorylation at this site. Impairs release of Ca(2+) stores from the endoplasmic reticulum.
Mutagenesis 804 – 804 S -> N. Loss of phosphorylation at Ser-801.
Mutagenesis 812 – 812 S -> A. Decreases interaction with PACS1 and enhances expression at the cell membrane. Decreases phosphorylation; when associated with A-721; A-801; A-831 and A-943.
Mutagenesis 812 – 812 S -> D. No effect on interaction with PACS1.



Literature citations
Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.
Reiterova J.; Stekrova J.; Peters D.J.M.; Kapras J.; Kohoutova M.; Merta M.; Zidovska J.;
Hum. Mutat. 19:573-573(2002)
Cited for: VARIANT PKD2 TRP-322; VARIANTS LEU-24; PRO-28 AND LEU-800;
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.