UniProtKB/SwissProt variant VAR

Variant information

Variant position:

970

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 Lysine (K) at position 970 (E970K, p.Glu970Lys).

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 large size and basic (K)

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

Other resources:

Links to websites of interest for the variant.

Variant rs6461515 [ dbSNP | Ensembl ]

Sequence information

Variant position:

970

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

Protein sequence length:

1257

The length of the canonical sequence.

Location on the sequence:

TPEGMFIVFTAIAYGAMAIG E TLVLAPEYSKAKSGAAHLFA

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                         TPEGMFIVFTAIAYGAMAIGETLVLA------PEYSKAKSGAAHLFA

Mouse                         MPEGMFIVFTAIAYGAMAIGETLVWA------PEYSKAKAG

Slime mold                    VVQGNLSVGDLVLVNGLLFQISLPLNFLGTVYREIKQSLVD

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 – 1257	ATP-binding cassette sub-family B member 5
Transmembrane	954 – 974	Helical
Domain	693 – 980	ABC transmembrane type-1 2
Alternative sequence	572 – 1257	Missing. In isoform 3.
Alternative sequence	577 – 1257	Missing. In isoform 2.

Literature citations

Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter.
Frank N.Y.; Pendse S.S.; Lapchak P.H.; Margaryan A.; Shlain D.; Doeing C.; Sayegh M.H.; Frank M.H.;
J. Biol. Chem. 278:47156-47165(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT LYS-970;

Principal expression of two mRNA isoforms (ABCB 5alpha and ABCB 5beta) of the ATP-binding cassette transporter gene ABCB 5 in melanoma cells and melanocytes.
Chen K.G.; Szakacs G.; Annereau J.-P.; Rouzaud F.; Liang X.-J.; Valencia J.C.; Nagineni C.N.; Hooks J.J.; Hearing V.J.; Gottesman M.M.;
Pigment Cell Res. 18:102-112(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANTS GLU-560 AND LYS-970; TISSUE SPECIFICITY;

Expression of human ABCB5 confers resistance to taxanes and anthracyclines.
Kawanobe T.; Kogure S.; Nakamura S.; Sato M.; Katayama K.; Mitsuhashi J.; Noguchi K.; Sugimoto Y.;
Biochem. Biophys. Res. Commun. 418:736-741(2012)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); FUNCTION; VARIANT LYS-970; CATALYTIC ACTIVITY;

Submission
Meij I.C.; van Aubel R.; Tammur J.; Dean M.; Russel F.G.; Allikmets R.; Cremers F.P.M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); VARIANT LYS-970;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT LYS-970;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q2M3G0: Variant p.Glu970Lys