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UniProtKB/Swiss-Prot P98161: Variant p.Gln3016Arg

Polycystin-1
Gene: PKD1
Variant information

Variant position:  3016
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  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

Involvement in disease:  Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]: An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. {ECO:0000269|PubMed:10200984, ECO:0000269|PubMed:10364515, ECO:0000269|PubMed:10577909, ECO:0000269|PubMed:10647901, ECO:0000269|PubMed:10729710, ECO:0000269|PubMed:10854095, ECO:0000269|PubMed:10923040, ECO:0000269|PubMed:10987650, ECO:0000269|PubMed:11012875, ECO:0000269|PubMed:11058904, ECO:0000269|PubMed:11115377, ECO:0000269|PubMed:11216660, ECO:0000269|PubMed:11316854, ECO:0000269|PubMed:11558899, ECO:0000269|PubMed:11571556, ECO:0000269|PubMed:11691639, ECO:0000269|PubMed:11773467, ECO:0000269|PubMed:11857740, ECO:0000269|PubMed:11967008, ECO:0000269|PubMed:12007219, ECO:0000269|PubMed:12070253, ECO:0000269|PubMed:12220456, ECO:0000269|PubMed:12482949, ECO:0000269|PubMed:12842373, ECO:0000269|PubMed:15772804, ECO:0000269|PubMed:18837007, ECO:0000269|PubMed:21115670, ECO:0000269|PubMed:22508176, ECO:0000269|PubMed:8554072, ECO:0000269|PubMed:9199561, ECO:0000269|PubMed:9259200, ECO:0000269|PubMed:9285784, ECO:0000269|PubMed:9521593, ECO:0000269|PubMed:9921908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In PKD1; does not undergo autoproteolytic cleavage.
Any additional useful information about the variant.



Sequence information

Variant position:  3016
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  4303
The length of the canonical sequence.

Location on the sequence:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SSHFRWS-----ALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEET

Mouse                         TSHFHWS-----ALEVSVGLYTSLCQYFSEEMMMWRTEGIV

Caenorhabditis elegans        YDSMQWSFARSVPMDYQVAAVSKGCYFYQKTSDVFNSEGMY

Slime mold                    -----------------------------------------

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.

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.