UniProtKB/Swiss-Prot Q92887: Variant p.Asn1244Lys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 1244 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 Asparagine (N) to Lysine (K) at position 1244 (N1244K, p.Asn1244Lys). 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 polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0 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: Decreased transporter activity. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs757141905 [ dbSNP | Ensembl ]

Sequence information

Variant position: 1244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1545 The length of the canonical sequence.
Location on the sequence: LMMVIYRDTLSGDTVGFVLS N ALNITQTLNWLVRMTSEIET 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.
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 – 1545	ATP-binding cassette sub-family C member 2
Transmembrane	1235 – 1255	Helical; Name=17
Domain	979 – 1264	ABC transmembrane type-1 2
Mutagenesis	1254 – 1254	W -> AC. Fails to transport methotrexate, leukotriene C4 and estradiol glucuronide.
Mutagenesis	1254 – 1254	W -> F. Fails to transport methotrexate and leukotriene C4. Does not affect estradiol glucuronide transport.
Mutagenesis	1254 – 1254	W -> Y. Fails to transport methotrexate; reduces leukotriene C4 transport. Does not affect estradiol glucuronide transport.
Helix	1235 – 1245

Literature citations

Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells.
Arlanov R.; Porter A.; Strand D.; Brough R.; Karpova D.; Kerb R.; Wojnowski L.; Schwab M.; Lang T.;
Hum. Mutat. 33:750-762(2012)
Cited for: VARIANTS PHE-39; GLY-333; HIS-353; ILE-486; THR-670; SER-921; THR-1036; HIS-1174; LEU-1181; GLU-1188; LEU-1291 AND TYR-1515; CHARACTERIZATION OF VARIANTS DJS PHE-1173; CHARACTERIZATION OF VARIANTS GLY-333; HIS-353; ILE-486; SER-921; THR-1036; HIS-1174; LEU-1181; LYS-1244 AND LEU-1291;