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UniProtKB/Swiss-Prot P98161: Variant p.Phe3066Leu

Gene: PKD1
Variant information

Variant position:  3066
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 Phenylalanine (F) to Leucine (L) at position 3066 (F3066L, p.Phe3066Leu).
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 (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  3066
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

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.




Slime mold                    --------STFNTPTKIHFI---------------------

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.

Chain 24 – 4303 Polycystin-1
Topological domain 24 – 3074 Extracellular
Mutagenesis 3049 – 3049 T -> CS. Does not affect auto-cleavage.
Mutagenesis 3049 – 3049 T -> GRV. Does not undergo auto-cleavage.

Literature citations

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
Watnick T.J.; Piontek K.B.; Cordal T.M.; Weber H.; Gandolph M.A.; Qian F.; Lens X.M.; Neumann H.P.H.; Germino G.G.;
Hum. Mol. Genet. 6:1473-1481(1997)
Cited for: VARIANTS PKD1 VAL-2763; THR-2826 AND LEU-3008; VARIANTS THR-2760; PRO-2761; THR-2764; GLN-2791 AND LEU-3066;

Novel mutations in the duplicated region of PKD1 gene.
Perrichot R.; Mercier B.; Quere I.; Carre A.; Simon P.; Whebe B.; Cledes J.; Ferec C.;
Eur. J. Hum. Genet. 8:353-359(2000)
Cited for: VARIANTS PKD1 MET-2250; TRP-2329 AND CYS-2379; VARIANTS LEU-3066; VAL-3139 AND LEU-3193;

Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
Koptides M.; Mean R.; Demetriou K.; Constantinides R.; Pierides A.; Harris P.C.; Deltas C.C.;
Hum. Mutat. 16:176-176(2000)
Cited for: VARIANTS PKD1 PRO-2921 AND MET-3375; VARIANT LEU-3066;

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
Rossetti S.; Strmecki L.; Gamble V.; Burton S.; Sneddon V.; Peral B.; Roy S.; Bakkaloglu A.; Komel R.; Winearls C.G.; Harris P.C.;
Am. J. Hum. Genet. 68:46-63(2001)
Cited for: VARIANTS PKD1 GLN-13; PHE-75; CYS-139; 1992-PHE-THR-1993 DELINS LEU; 2220-ARG--PRO-2224 DEL; ASP-2336; ASP-2752; ILE-LEU-MET-ARG-2765 INS; MET-2768; LYS-2771; PRO-2816; SER-2858; 3012-THR--TYR-3017 DEL AND 3748-LEU--ARG-3752 DEL; VARIANTS SER-2674; MET-2708; THR-2734; LEU-2735; CYS-2765; MET-2782; ARG-2814; GLY-2888; ILE-2905; ASP-2966 AND LEU-3066;

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
Bouba I.; Koptides M.; Mean R.; Costi C.-E.; Demetriou K.; Georgiou I.; Pierides A.; Siamopoulos K.; Deltas C.C.;
Eur. J. Hum. Genet. 9:677-684(2001)
Cited for: VARIANTS PKD1 LEU-2471; LEU-2519; GLY-2579 DEL; LEU-2613 DEL; ILE-2649 AND PHE-2978 DEL; VARIANTS MET-2582; ARG-2638; ASN-2972 AND LEU-3066;

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;

Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
Peltola P.; Lumiaho A.; Miettinen R.; Pihlajamaeki J.; Sandford R.; Laakso M.;
J. Mol. Med. 83:638-646(2005)
Cited for: VARIANTS PKD1 SER-845; MET-3138 AND PRO-3954; VARIANTS HIS-36; ARG-2638; LEU-3066; MET-3510; VAL-3512; VAL-4045 AND VAL-4059;

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.