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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08F94: Variant p.Ile222Val

Fibrocystin
Gene: PKHD1
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Variant information Variant position: help 222 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Isoleucine (I) to Valine (V) at position 222 (I222V, p.Ile222Val). 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: help 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: help 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
Variant description: help In PKD4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 222 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 4074 The length of the canonical sequence.
Location on the sequence: help YPIQEDHGLGTLQCHVEGDY I GSQNVSFSVFNKGKSMVHKK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         YPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVHKK

Mouse                         FPIQEEHGLGNVQCRVEGDYIGSQNVSFSVFNKGRSMVHKE
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 24 – 4074 Fibrocystin
Topological domain 24 – 3858 Extracellular
Domain 137 – 232 IPT/TIG 2
Glycosylation 226 – 226 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; 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; 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;
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.