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UniProtKB/Swiss-Prot P98161: Variant p.Met1092Thr

Gene: PKD1
Variant information

Variant position:  1092
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Methionine (M) to Threonine (T) at position 1092 (M1092T, p.Met1092Thr).
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 medium size and hydrophobic (M) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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.

Sequence information

Variant position:  1092
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.



Caenorhabditis elegans        EFRINMTDLTTMQV-----VSHIFT------LNVVADSTS-

Slime mold                    KLYTPPPAPMLKGL---------------------------

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
Domain 1023 – 1129 PKD 5
Glycosylation 1072 – 1072 N-linked (GlcNAc...) asparagine

Literature citations

Polycystic kidney disease: the complete structure of the PKD1 gene and its protein.
Gluecksmann-Kuis M.A.; Tayber O.; Woolf E.A.; Bougueleret L.; Deng N.; Alperin G.D.; Iris F.; Hawkins F.; Munro C.; Lakey N.; Duyk G.; Schneider M.C.; Geng L.; Zhang F.; Zhao Z.; Torosian S.; Reeders S.T.; Bork P.; Pohlschmidt M.; Loehning C.; Kraus B.; Nowicka U.; Leung A.L.S.; Frischauf A.-M.;
Cell 81:289-298(1995)

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;

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.