UniProtKB/Swiss-Prot P55851: Variant p.Ser282Cys

Dicarboxylate carrier SLC25A8
Gene: UCP2
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Variant information Variant position:

282 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 Serine (S) to Cysteine (C) at position 282 (S282C, p.Ser282Cys). 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 small size and polar (S) to medium size and polar (C) 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
Polymorphism:

Genetic variations in UCP2 define the body mass index quantitative trait locus 4 (BMIQ4) [MIM:607447]. A common polymorphism in the promoter of UCP2 has been shown to be associated with a decreased risk of obesity in middle-aged individuals. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs45596837 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QKEGPRAFYKGFMPSFLRLG S WNVVMFVTYEQLKRALMAAC 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                         QKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAC

                              QKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAC

Mouse                         RKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAY

Rat                           RKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAY

Pig                           QKEGPRAFYKGFTPSFLRLGSWNVVMFVTYEQLKRALMAAR

Bovine                        QKEGPQAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMAAR

Zebrafish                     TKKGPKAFFKGFMPSFLRLGSWNVVMFVTYEQLKRAMMAAR

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 – 309	Dicarboxylate carrier SLC25A8
Transmembrane	269 – 294	Helical; Name=6
Repeat	212 – 297	Solcar 3
Region	278 – 285	Important for interaction with long-chain fatty acids

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-55; GLN-76; GLN-154; GLY-268 AND CYS-282;

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.