UniProtKB/Swiss-Prot P07911: Variant p.Cys155Arg

Uromodulin
Gene: UMOD
Feedback?

Variant information Variant position:

155 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Cysteine (C) to Arginine (R) at position 155 (C155R, p.Cys155Arg). 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 (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein. Any additional useful information about the variant.

Sequence information Variant position:

155 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:

CVCPAGYRGDGWHCECSPGS C GPGLDCVPEGDALVCADPCQ 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                         CVCPAGYRGDGWHCECSPGSCGPGLDCVPEGDA--LVCADPCQ

                              CVCPAGYRGDGQHCECSPGSCGPGLDCVPVGDA--LVCADP

Mouse                         CVCPEGFTGDGWYCECSPGSCEPGLDCLPQGPDGKLVCQDP

Rat                           CVCPKGYRGDGWYCECSPGFCEPGLDCLPQGPSGKLVCQDP

Bovine                        CVCPAGYLGDGRHCECSPGSCGPGLDCVREGDA--LVCVDP

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
Region	150 – 171	Beta hairpin
Disulfide bond	150 – 161
Disulfide bond	155 – 170
Alternative sequence	67 – 199	Missing. In isoform 2.

Literature citations
Pathogenic uromodulin mutations result in premature intracellular polymerization.
Stewart A.P.; Sandford R.N.; Karet Frankl F.E.; Edwardson J.M.;
FEBS Lett. 589:89-93(2015)
Cited for: VARIANT ARG-155; CHARACTERIZATION OF VARIANT ADTKD1 SER-150; CHARACTERIZATION OF VARIANT ARG-155;

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.