Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Gln3016Arg

Polycystin-1
Gene: PKD1
Feedback?
Variant information Variant position: help 3016 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 Glutamine (Q) to Arginine (R) at position 3016 (Q3016R, p.Gln3016Arg). 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 Change from medium size and polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In PKD1; does not undergo autoproteolytic cleavage. Any additional useful information about the variant.


Sequence information Variant position: help 3016 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 4303 The length of the canonical sequence.
Location on the sequence: help SSHFRWSALQVSVGLYTSLC Q YFSEEDMVWRTEGLLPLEET 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                         SSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEET

Mouse                         TSHFHWSALEVSVGLYTSLCQYFSEEMMMWRTEGIVPLEET

Caenorhabditis elegans        WSFARSVPMDYQVAAVSKGCYFYQKTSDVFNSEGMYPSDGQ

Slime mold                    -----------------------------------------
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 24 – 4303 Polycystin-1
Topological domain 24 – 3074 Extracellular
Domain 3012 – 3061 GPS



Literature citations
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
Qian F.; Boletta A.; Bhunia A.K.; Xu H.; Liu L.; Ahrabi A.K.; Watnick T.J.; Zhou F.; Germino G.G.;
Proc. Natl. Acad. Sci. U.S.A. 99:16981-16986(2002)
Cited for: FUNCTION IN RENAL TUBULOGENESIS; AUTOCATALYTIC CLEAVAGE AT LEU-3048; CHARACTERIZATION OF VARIANTS PKD1 LYS-2771; PRO-2921; PRO-2993 AND ARG-3016; CHARACTERIZATION OF VARIANT GLN-2791; Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
Peral B.; Gamble V.; Strong C.; Ong A.C.M.; Sloane-Stanley J.; Zerres K.; Winearls C.G.; Harris P.C.;
Am. J. Hum. Genet. 60:1399-1410(1997)
Cited for: VARIANTS PKD1 PRO-2993; ARG-3016 AND VAL-3511; VARIANTS MET-3510 AND PHE-4190;
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.