UniProtKB/Swiss-Prot P08F94 : Variant p.Thr36Met
Fibrocystin
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Variant information
Variant position:
36
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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:
36 (T36M, p.Thr36Met).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Variant description:
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
36
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
4074
The length of the canonical sequence.
Location on the sequence:
T WITVIFDGLELGVLYPNNGS
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 LAVRHLSLHIEPEEGSLAGGT WITVIFDGLELGVLYPNNGS
Mouse LAKPYSSFQFEPAEGSLAGGT WITVVFDGLDRSILYPNNGS
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 – 4074 Fibrocystin
Topological domain
24 – 3858 Extracellular
Domain
24 – 111 IPT/TIG 1; atypical
Glycosylation
54 – 54 N-linked (GlcNAc...) asparagine
Literature citations
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Ward C.J.; Hogan M.C.; Rossetti S.; Walker D.; Sneddon T.; Wang X.; Kubly V.; Cunningham J.M.; Bacallao R.; Ishibashi M.; Milliner D.S.; Torres V.E.; Harris P.C.;
Nat. Genet. 30:259-269(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553; VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048;
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats.
Onuchic L.F.; Furu L.; Nagasawa Y.; Hou X.; Eggermann T.; Ren Z.; Bergmann C.; Senderek J.; Esquivel E.; Zeltner R.; Rudnik-Schoeneborn S.; Mrug M.; Sweeney W.; Avner E.D.; Zerres K.; Guay-Woodford L.M.; Somlo S.; Germino G.G.;
Am. J. Hum. Genet. 70:1305-1317(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); ALTERNATIVE SPLICING; VARIANTS PKD4 MET-36; VAL-222; LEU-253; HIS-760; SER-1122; TRP-1624 AND THR-2957; VARIANTS VAL-1870 AND TYR-3139;
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Bergmann C.; Senderek J.; Sedlacek B.; Pegiazoglou I.; Puglia P.; Eggermann T.; Rudnik-Schoeneborn S.; Furu L.; Onuchic L.F.; De Baca M.; Germino G.G.; Guay-Woodford L.; Somlo S.; Moser M.; Buettner R.; Zerres K.;
J. Am. Soc. Nephrol. 14:76-89(2003)
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553; VARIANTS MET-579; SER-830 AND TYR-3139;
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
Furu L.; Onuchic L.F.; Gharavi A.; Hou X.; Esquivel E.L.; Nagasawa Y.; Bergmann C.; Senderek J.; Avner E.; Zerres K.; Germino G.G.; Guay-Woodford L.M.; Somlo S.;
J. Am. Soc. Nephrol. 14:2004-2014(2003)
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783; VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960;
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Rossetti S.; Torra R.; Coto E.; Consugar M.; Kubly V.; Malaga S.; Navarro M.; El-Youssef M.; Torres V.E.; Harris P.C.;
Kidney Int. 64:391-403(2003)
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622; VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048;
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C.; Senderek J.; Schneider F.; Dornia C.; Kuepper F.; Eggermann T.; Rudnik-Schoeneborn S.; Kirfel J.; Moser M.; Buettner R.; Zerres K.;
Hum. Mutat. 23:487-495(2004)
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482; VARIANTS LYS-2869 AND TYR-3139;
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
Tavira B.; Gomez J.; Malaga S.; Santos F.; Fernandez-Aracama J.; Alonso B.; Iglesias S.; Benavides A.; Hernando I.; Plasencia A.; Alvarez V.; Coto E.;
Gene 561:165-169(2015)
Cited for: VARIANTS PKD4 HIS-19; MET-36; LYS-218; VAL-222; TRP-1624; TRP-1624; THR-2957 AND ILE-3289; VARIANTS MET-579; SER-830 AND LYS-2869;
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W.; Dong K.; Choi J.; Punia S.; Fedeles S.V.; Choi M.; Gallagher A.R.; Huang E.B.; Gulati A.; Knight J.; Mane S.; Tahvanainen E.; Tahvanainen P.; Sanna-Cherchi S.; Lifton R.P.; Watnick T.; Pei Y.P.; Torres V.E.; Somlo S.;
J. Clin. Invest. 127:1772-1785(2017)
Cited for: VARIANTS MET-36; 496-ARG--LEU-4074 DEL; ILE-2436; SER-2648; TYR-3024; 3070-GLN--LEU-4074 DEL; CYS-3210; ALA-3263; 3407-GLN--LEU-4074 DEL; SER-3780; 4009-TYR--LEU-4074 DEL; PRO-4037 AND 4048-GLN--LEU-4074 DEL;
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.
