UniProtKB/SwissProt variant VAR

Variant information

Variant position:

280

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 Glutamate (E) to Glycine (G) at position 280 (E280G, p.Glu280Gly).

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 acidic (E) to glycine (G)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

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

Other resources:

Links to websites of interest for the variant.

Variant rs1048778 [ dbSNP | Ensembl ]

Sequence information

Variant position:

280

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

469

The length of the canonical sequence.

Location on the sequence:

SHGHGRQERSTKEKQSSEEE E KETRGVQKRRGGSTVPKDGP

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                         SHGHGRQERSTKEKQSSEEEEKETRGVQKRRGGSTVPKDGP

                              SHGHGTQKYPSKEKQSSEEEEKEANGSRKRKGGSTRLKDGP

Mouse                         SHTHGDRHECSSKEKPSTEEEKEVGGLRKRRGGNTGPRDGP

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 – 469	Zinc transporter SLC39A7
Modified residue	275 – 275	Phosphoserine; by CK2
Modified residue	276 – 276	Phosphoserine; by CK2
Mutagenesis	275 – 275	S -> A. Loss of phosphorylation in response to Zn(2+) treatment and of cytosolic Zn(2+) release; when associated with A-276.
Mutagenesis	276 – 276	S -> A. Loss of phosphorylation in response to Zn(2+) treatment and of cytosolic Zn(2+) release; when associated with A-275.

Literature citations

cDNA cloning of the human homologues of the mouse Ke4 and Ke6 genes at the centromeric end of the human MHC region.
Ando A.; Kikuti Y.Y.; Shigenari A.; Kawata H.; Okamoto N.; Shiina T.; Chen L.; Ikemura T.; Abe K.; Kimura M.; Inoko H.;
Genomics 35:600-602(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLY-280;

Molecular cloning and characterization of the human KE4 gene and 5' flanking region.
Vergara A.; Lana I.; Corella A.; de Miguel C.; Migliaccio M.; Encio I.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLY-280;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92504: Variant p.Glu280Gly