UniProtKB/Swiss-Prot P07911 : Variant p.Gln316Pro
Uromodulin
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Variant information
Variant position:
316
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:
316 (Q316P, p.Gln316Pro).
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:
316
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
640
The length of the canonical sequence.
Location on the sequence:
Q CKQDFNITDISLLEHRLECG
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 TCEECSIDEDCKSNNGRWHCQ CKQDFNITDISLLEHRLECG
TCEECSVEEDCKSHDGMWSCQ CKQDFNVTDLFLLD-RLECR
Mouse TCEECRVDEDCISDNGRWRCQ CKQDSNITDVSQLEYRLECG
Rat TCEECGVDEDCVSDNGRWRCQ CKQDFNVTDVSLLEHRLECE
Bovine TCEECRVDEDCKSDNGEWHCQ CKQDFNVTDLSLLERRLECG
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
25 – 614 Uromodulin
Chain
25 – 587 Uromodulin, secreted form
Domain
292 – 323 EGF-like 4
Glycosylation
322 – 322 N-linked (GlcNAc...) (complex) asparagine
Mutagenesis
333 – 333 L -> K. Abolishes polymerization and filament formation of the secreted form.
Beta strand
313 – 317
Literature citations
A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.
Lens X.M.; Banet J.F.; Outeda P.; Barrio-Lucia V.;
Am. J. Kidney Dis. 46:52-57(2005)
Cited for: VARIANT ADTKD1 PRO-316;
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.
