UniProtKB/Swiss-Prot O14618: Variant p.Arg163Trp

Copper chaperone for superoxide dismutase
Gene: CCS
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Variant information Variant position:

163 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 Tryptophan (W) at position 163 (R163W, p.Arg163Trp). 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 large size and aromatic (W) 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:

Found in a patient with congenital cataracts, hearing loss, neurodegeneration, neonatal hypotonia and hypoglycemia, pericardial effusion and neurodevelopmental regression after infection; the patient also carries a mutation in SLC33A1; mutant protein does not interact with SOD1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs142340643 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SCGNHFNPDGASHGGPQDSD R HRGDLGNVRADADGRAIFRM 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                         SCGNHFNPDGASHGGPQDSDRHRGD--------------------------LGNVRADADGRAIFRM

Mouse                         SCGDHFNPDGASHGGPQDTDRHRGD----------------

Rat                           SCGDHFNPDGASHGGPQDTDRHRGD----------------

Pig                           SCGDHFNPDGMSHGGPQDSDRHRGD----------------

Slime mold                    DLGEPFISNVENNNNNNNNNNNNNNNNNNNNNNNNNNNKNI

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	1 – 274	Copper chaperone for superoxide dismutase
Region	88 – 234	Superoxide dismutase-like
Binding site	147 – 147
Binding site	155 – 155
Binding site	164 – 164
Binding site	167 – 167
Disulfide bond	141 – 227
Beta strand	160 – 163

Literature citations
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Huppke P.; Brendel C.; Korenke G.C.; Marquardt I.; Donsante A.; Yi L.; Hicks J.D.; Steinbach P.J.; Wilson C.; Elpeleg O.; Moller L.B.; Christodoulou J.; Kaler S.G.; Gartner J.;
Hum. Mutat. 33:1207-1215(2012)
Cited for: INTERACTION WITH SOD1; VARIANT TRP-163; CHARACTERIZATION OF VARIANT TRP-163;

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.