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UniProtKB/Swiss-Prot Q2M3G0: Variant p.Glu970Lys

ATP-binding cassette sub-family B member 5
Gene: ABCB5
Chromosomal location: 7p14
Variant information

Variant position:  970
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

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.



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.

TypePositionsDescription
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;

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;

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.