UniProtKB/Swiss-Prot O94956 : Variant p.Glu77Lys
Solute carrier organic anion transporter family member 2B1
Gene: SLCO2B1
Feedback ?
Variant information
Variant position:
77
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
US
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 77 (E77K, p.Glu77Lys).
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
Variant description:
In a breast cancer sample; somatic mutation.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
77
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
709
The length of the canonical sequence.
Location on the sequence:
LLQLAQLMISGYLKSSISTV
E KRFGLSSQTSGLLASFNEVG
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 LLQLAQLMISGYLKSSISTVE KRFGLSSQTSGLLASFNEVG
Mouse LLQLTQLMISGYLKSSISTVE KRFGLSSQISGLLAAFNEVG
Rat ILQLAQLMISGYLKSSISTVE KRFGLSSQTSGLLAAFNEVG
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 – 709
Solute carrier organic anion transporter family member 2B1
Topological domain
70 – 88
Extracellular
Alternative sequence
1 – 116
Missing. In isoform 2.
Alternative sequence
6 – 149
Missing. In isoform 4.
Mutagenesis
57 – 57
L -> A. Decreased E1S transport.
Mutagenesis
58 – 58
L -> A. Decreased E1S transport, no change in cell surface expression; increased Km value and decreased Vmax value for E1S transport activity. Decreased taurocholate transport.
Mutagenesis
58 – 58
L -> I. Decreased E1S transport.
Mutagenesis
59 – 59
Q -> A. Decreased E1S transport, no change in cell surface expression; no change in Km value and decreased Vmax value for E1S transport activity. Decreased taurocholate transport.
Mutagenesis
59 – 59
Q -> N. Decreased E1S transport.
Mutagenesis
60 – 60
L -> A. No change in E1S transport.
Mutagenesis
61 – 61
A -> V. Decreased E1S transport, no change in cell surface expression, increased Km value and decreased Vmax value for E1S transport activity. Decreased taurocholate transport.
Mutagenesis
62 – 62
Q -> A. Decreased E1S transport, no change in cell surface expression; no change in Km value and decreased Vmax value for E1S transport activity. Decreased taurocholate transport.
Mutagenesis
62 – 62
Q -> N. Decreased E1S transport; no change in cell surface expression.
Mutagenesis
63 – 63
L -> A. Decreased E1S transport.
Mutagenesis
64 – 64
M -> A. No change in E1S transport.
Mutagenesis
65 – 65
I -> A. Decreased E1S transport, no change in cell surface expression.
Mutagenesis
66 – 66
S -> A. Decreased E1S transport, no change in cell surface expression, increased Km value and decreased Vmax value for E1S transport activity. Decreased taurocholate transport.
Mutagenesis
66 – 66
S -> T. Decreased E1S transport.
Mutagenesis
67 – 67
G -> A. Decreased E1S transport.
Mutagenesis
68 – 68
Y -> A. No change in E1S transport.
Mutagenesis
69 – 69
L -> A. Decreased E1S transport, no change in cell surface expression; no change in Km value and decreased Vmax value for E1S transport activity. Decreased taurocholate transport.
Mutagenesis
69 – 69
L -> I. Decreased E1S transport.
Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-77;
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.