UniProtKB/SwissProt variant VAR

Polycystin-2
Gene: PKD2
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Variant information Variant position:

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

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:

From Arginine (R) to Glutamine (Q) at position 807 (R807Q, p.Arg807Gln). 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 (Q) 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 PKD2. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs147654263 [ dbSNP | Ensembl ]

Sequence information Variant position:

807 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

968 The length of the canonical sequence.
Location on the sequence:

EDLDLDHSSLPRPMSSRSFP R SLDDSEEDDDEDSGHSSRRR 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                         EDLDLDHSSLPRPMSSRSFPRSLDDSEEDDDEDSGHSSRRR

Mouse                         EDLDLEHSSLPRPMSSRSFPRSLDDSEEEDDEDSGHSSRRR

Bovine                        EDLDLDHSSLPRPMSSRSFPRSLDDSEEEDDDDSGHSSRRR

Zebrafish                     EDLDLEHSSLPRPASGRSFSRSQDDSEEDDDEDSGHSSRRR

Caenorhabditis elegans        ------------------------------DEVARMTEQKR

Fission yeast                 ------------PFSNRN------------DSDSTFTNNKY

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	1 – 968	Polycystin-2
Topological domain	676 – 968	Cytoplasmic
Region	764 – 831	Disordered
Region	803 – 822	Linker
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
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Magistroni R.; He N.; Wang K.; Andrew R.; Johnson A.; Gabow P.; Dicks E.; Parfrey P.; Torra R.; San-Millan J.L.; Coto E.; Van Dijk M.; Breuning M.; Peters D.; Bogdanova N.; Ligabue G.; Albertazzi A.; Hateboer N.; Demetriou K.; Pierides A.; Deltas C.; St George-Hyslop P.; Ravine D.; Pei Y.;
J. Am. Soc. Nephrol. 14:1164-1174(2003)
Cited for: VARIANTS PKD2 PRO-356; GLY-414; ARG-632 AND GLN-807;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13563: Variant p.Arg807Gln