UniProtKB/Swiss-Prot P98161: Variant p.Ile4045Val

Polycystin-1
Gene: PKD1
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Variant information Variant position:

4045 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 Isoleucine (I) to Valine (V) at position 4045 (I4045V, p.Ile4045Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 rs10960 [ dbSNP | Ensembl ]

Sequence information Variant position:

4045 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:

ELLGVTLGLVVLGVAYAQLA I LLVSSCVDSLWSVAQALLVL 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                         ELLGVTLGLVVLGVAYAQLAILLVSSCVDSLWSVAQALLVL

Mouse                         ELMGATLGLVLLGVAYAQMAILLISSGADTLYNMARAFLVL

Caenorhabditis elegans        AIVSFGIAFLFFSMTFNSVLYAVLGNKMGGYRSLMATFQTA

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.

Type	Positions	Description
Chain	24 – 4303	Polycystin-1
Transmembrane	4028 – 4048	Helical

Literature citations
Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.
Daniells C.; Maheshwar M.M.; Lazarou L.; Davies F.; Coles G.; Ravine D.;
Hum. Genet. 102:216-220(1998)
Cited for: VARIANT PKD1 ASP-4032; VARIANT VAL-4045; Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
Afzal A.R.; Hand M.; Ternes-Pereira E.; Saggar-Malik A.; Taylor R.; Jeffery S.;
Hum. Genet. 105:648-653(1999)
Cited for: VARIANTS PKD1 3748-ARG--VAL-3752 DEL AND LEU-4132 DEL; VARIANT VAL-4045; Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.
Aguiari G.; Savelli S.; Garbo M.; Bozza A.; Augello G.; Penolazzi L.; De Paoli Vitali E.; La Torre C.; Cappelli G.; Piva R.; del Senno L.;
Hum. Mutat. 16:444-445(2000)
Cited for: VARIANTS PKD1 GLN-3719 AND PRO-3852; VARIANT VAL-4045; 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 mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease.
Ding L.; Zhang S.; Qiu W.; Xiao C.; Wu S.; Zhang G.; Cheng L.; Zhang S.;
Nephrol. Dial. Transplant. 17:75-80(2002)
Cited for: VARIANTS PKD1 ASP-3632; LEU-3649 AND THR-3678; VARIANTS VAL-4045; VAL-4059; GLU-4102; PRO-4106 AND ILE-4146; 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;

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