UniProtKB/Swiss-Prot Q9C0K1: Variant p.Cys113Ser

Metal cation symporter ZIP8
Gene: SLC39A8
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Variant information Variant position:

113 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 Cysteine (C) to Serine (S) at position 113 (C113S, p.Cys113Ser). 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 small size and polar (S) 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
Variant description:

Found in patients with features of Leigh syndrome; likely pathogenic; no effect on protein abundance; loss of localization to the plasma membrane; retained in the endoplasmic reticulum; loss of manganese ion transmembrane transport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1444255127 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TSSKFSVICPAVLQQLNFHP C EDRPKHKTRPSHSEVWGYGF 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                         TSSKFSVICPAVLQQLNFHPCEDRPKHKTRPSHSEVWGYGF

Mouse                         TSSNFSAICPAILQQLNFHPCEDLRKHNAKPSLSEVWGYGF

Rat                           TSSNFTAICPAILQQLNFHPCEDPQKHSVKPSFSEVWGYGF

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	23 – 460	Metal cation symporter ZIP8
Topological domain	23 – 132	Extracellular

Literature citations
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.
Riley L.G.; Cowley M.J.; Gayevskiy V.; Roscioli T.; Thorburn D.R.; Prelog K.; Bahlo M.; Sue C.M.; Balasubramaniam S.; Christodoulou J.;
J. Inherit. Metab. Dis. 40:261-269(2017)
Cited for: DISEASE; VARIANT SER-113; CHARACTERIZATION OF VARIANT SER-113; Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.
Choi E.K.; Nguyen T.T.; Gupta N.; Iwase S.; Seo Y.A.;
Sci. Rep. 8:3163-3163(2018)
Cited for: CHARACTERIZATION OF VARIANT CDG2N ARG-38; CHARACTERIZATION OF VARIANT SER-113; FUNCTION; TRANSPORTER ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; INDUCTION;

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.