UniProtKB/Swiss-Prot P98161: Variant p.Phe3066Leu

Polycystin-1
Gene: PKD1
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Variant information Variant position:

3066 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 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
Other resources:

Links to websites of interest for the variant.

Variant rs9925969 [ dbSNP | Ensembl ]

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.
Location on the sequence:

RHLTAFGASLFVPPSHVRFV F PEPTADVNYIVMLTCAVCLV 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                         RHLTAFGASLFVPPSHVRFVFPEPTADV--NYIVMLTCAVCLV

Mouse                         RHLTAFGASLFVPPSHVQFIFPEPSASI--NYIVLLTCVIC

Caenorhabditis elegans        DHLTMFSVGAFNPTIDADFSYNYNVNEIEKNVKVMIAAVFM

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.

Type	Positions	Description
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 THR-2760; PRO-2761; VAL-2763; THR-2764; GLN-2791; THR-2826 AND LEU-3008; VARIANT 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.