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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98161: Variant p.Arg3753Trp

Polycystin-1
Gene: PKD1
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Variant information Variant position: help 3753 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 Arginine (R) to Tryptophan (W) at position 3753 (R3753W, p.Arg3753Trp). 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 large size and basic (R) to large size and aromatic (W) 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 PKD1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 3753 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 PYVHGNQSSPELGPPRLRQV R LQEALYPDPPGPRVHTCSAA 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                         PYVHGNQS-----------SPELGPPRLRQVRLQEALYPDPPGPRVHTCSAA

Mouse                         PYVHGNQS-----------SPELGPPRLRQVRLQEA-FCPD

Caenorhabditis elegans        SWYDGNPAYGMRAYMNDKVSRSMGIGTIRQVRTKKSAECTM

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 3687 – 3901 Extracellular
Glycosylation 3738 – 3738 N-linked (GlcNAc...) asparagine



Literature citations
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
Kim U.K.; Jin D.K.; Ahn C.; Shin J.H.; Lee K.B.; Kim S.H.; Chae J.J.; Hwang D.Y.; Lee J.G.; Namkoong Y.; Lee C.C.;
Mutat. Res. 432:39-45(2000)
Cited for: VARIANTS PKD1 TRP-3753 AND ASN-3815; Mutational analysis within the 3' region of the PKD1 gene in Japanese families.
Tsuchiya K.; Komeda M.; Takahashi M.; Yamashita N.; Cigira M.; Suzuki T.; Suzuki K.; Nihei H.; Mochizuki T.;
Mutat. Res. 458:77-84(2001)
Cited for: VARIANTS PKD1 ARG-3560; GLN-3719 AND TRP-3753; VARIANT MET-3510; Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Audrezet M.P.; Gall E.C.; Chen J.M.; Redon S.; Quere I.; Creff J.; Benech C.; Maestri S.; Meur Y.L.; Ferec C.;
Hum. Mutat. 33:1239-1250(2012)
Cited for: VARIANTS PKD1 CYS-325; TRP-611; ASP-698; PRO-727; GLY-1206; CYS-2379; CYS-2767; LYS-2771; ARG-2995; SER-3651; GLN-3750; TRP-3753; CYS-4150 AND TRP-4276;
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.