UniProtKB/Swiss-Prot Q8WUJ3: Variant p.Arg187Cys

Cell migration-inducing and hyaluronan-binding protein
Gene: CEMIP
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Variant information Variant position:

187 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 Arginine (R) to Cysteine (C) at position 187 (R187C, p.Arg187Cys). 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 large size and basic (R) to medium size and polar (C) 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:

In a family with non-syndromic hearing loss; reduces hyaluronic acid degradation activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs368854657 [ dbSNP | Ensembl ]

Sequence information Variant position:

187 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1361 The length of the canonical sequence.
Location on the sequence:

TLHPGGMAEGGYFFERSWGH R GVIVHVIDPKSGTVIHSDRF 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                         TLHPGGMAEGGYFFERSWGHRGVIVHVIDPKSGTVIHSDRF

Mouse                         TLHPGGMQEGGYFFERSWGHRGVIVHVIDAKLGTVVHSDRF

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	31 – 1361	Cell migration-inducing and hyaluronan-binding protein
Domain	176 – 317	GG-type lectin 1

Literature citations
Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss.
Abe S.; Usami S.; Nakamura Y.;
J. Hum. Genet. 48:564-570(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS CYS-187; HIS-187 AND TYR-783; VARIANTS ARG-783; ILE-1109 AND ALA-1169; KIAA1199, a deafness gene of unknown function, is a new hyaluronan binding protein involved in hyaluronan depolymerization.
Yoshida H.; Nagaoka A.; Kusaka-Kikushima A.; Tobiishi M.; Kawabata K.; Sayo T.; Sakai S.; Sugiyama Y.; Enomoto H.; Okada Y.; Inoue S.;
Proc. Natl. Acad. Sci. U.S.A. 110:5612-5617(2013)
Cited for: FUNCTION IN HYALURONIC ACID DEGRADATION; CATALYTIC ACTIVITY; ACTIVITY REGULATION; HYALURONIC ACID-BINDING; INTERACTION WITH CLATHRIN; SUBCELLULAR LOCATION; INDUCTION; CHARACTERIZATION OF VARIANTS CYS-187; HIS-187; ARG-783 AND ILE-1109;

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.