UniProtKB/Swiss-Prot P98161: Variant p.Trp1399Arg

Polycystin-1
Gene: PKD1
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Variant information Variant position:

1399 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Tryptophan (W) to Arginine (R) at position 1399 (W1399R, p.Trp1399Arg). 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 aromatic (W) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Other resources:

Links to websites of interest for the variant.

Variant rs116092985 [ dbSNP | Ensembl ]

Sequence information Variant position:

1399 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:

EVGNVTLQPERQFVQLGDEA W LVACAWPPFPYRYTWDFGTE 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                         EVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTE

Mouse                         EIRNITLQPERQFVKLGDEARLVAYSWPPFPYRYTWDFGTE

Caenorhabditis elegans        TTTTET---------------------PPTTVSSSDDAGGK

Slime mold                    ----------------------------PF-----------

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	24 – 4303	Polycystin-1
Topological domain	24 – 3074	Extracellular
Domain	1382 – 1469	PKD 9
Glycosylation	1382 – 1382	N-linked (GlcNAc...) asparagine

Literature citations
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
Thomas R.L.; McConnell R.; Whittacker J.; Kirkpatrick P.; Bradley J.; Sandford R.;
Am. J. Hum. Genet. 65:39-49(1999)
Cited for: VARIANTS PKD1 LEU-324 AND SER-845; VARIANTS ARG-1399 AND LEU-1786; Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
Watnick T.; Phakdeekitcharoen B.; Johnson A.; Gandolph M.A.; Wang M.; Briefel G.; Klinger K.W.; Kimberling W.; Gabow P.; Germino G.G.;
Am. J. Hum. Genet. 65:1561-1571(1999)
Cited for: VARIANTS PKD1 PRO-2392 AND PHE-2423; VARIANTS ARG-1399; GLN-2548 AND ARG-2638; Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
McCluskey M.; Schiavello T.; Hunter M.; Hantke J.; Angelicheva D.; Bogdanova N.; Markoff A.; Thomas M.; Dworniczak B.; Horst J.; Kalaydjieva L.;
Hum. Mutat. 19:240-250(2002)
Cited for: VARIANTS PKD1 CYS-381; ASP-2185; THR-2421 DEL; ASP-2785 AND 3027-THR--ARG-3039 DEL; VARIANTS GLN-739; THR-1092; ARG-1399; MET-1649; ARG-2638; CYS-2765 AND LEU-3066; Mutation screening of the PKD1 transcript by RT-PCR.
Burtey S.; Lossi A.M.; Bayle J.; Berland Y.; Fontes M.;
J. Med. Genet. 39:422-429(2002)
Cited for: VARIANT PKD1 HIS-987; VARIANTS ARG-1399 AND VAL-4045; A complete mutation screen of the ADPKD genes by DHPLC.
Rossetti S.; Chauveau D.; Walker D.; Saggar-Malik A.; Winearls C.G.; Torres V.E.; Harris P.C.;
Kidney Int. 61:1588-1599(2002)
Cited for: VARIANTS PKD1 TRP-1340; LYS-1811; CYS-2092; ILE-2260 DEL; PHE-3167 AND PRO-3852; VARIANTS LEU-61; SER-572; THR-1092; SER-1168; ARG-1399; LEU-1684; ILE-1943; ARG-2638; SER-2674; MET-2708; ARG-2814; LEU-2958; ASN-2977; MET-3057; GLN-3435; VAL-3512; VAL-4045; VAL-4059; SER-4124; ILE-4146 AND PHE-4190; Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Tan Y.-C.; Blumenfeld J.D.; Anghel R.; Donahue S.; Belenkaya R.; Balina M.; Parker T.; Levine D.; Leonard D.G.B.; Rennert H.;
Hum. Mutat. 30:264-273(2009)
Cited for: VARIANTS PKD1 LEU-61; ILE-99; TYR-594; MET-1242; CYS-2200; LYS-2422; ARG-2638; LEU-3066; SER-3726 AND VAL-4155; VARIANTS HIS-36; GLN-739; THR-1092; ARG-1399; THR-1516; THR-1871; VAL-1926; ASP-1952; MET-2708; ARG-2814; VAL-3512; VAL-4045 AND VAL-4059;

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.