UniProtKB/Swiss-Prot P08F94: Variant p.Thr2869Lys

Fibrocystin
Gene: PKHD1
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Variant information Variant position:

2869 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 Threonine (T) to Lysine (K) at position 2869 (T2869K, p.Thr2869Lys). 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 polar (T) to large size and basic (K) 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.

Variant rs142522748 [ dbSNP | Ensembl ]

Sequence information Variant position:

2869 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:

GTIGVYGKVHLYSAYPKNSW T HLGADIASGNERIIVEDAVD 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                         GTIGVYGKVHLYSAYPKNSWTHLGADIASGNERIIVEDAVD

Mouse                         GTIGVYGKLRLHSAYPKKSWVHLGADIAPGNERIIVHNAVD

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	2747 – 2873	G8 2

Literature citations
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;

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.