UniProtKB/Swiss-Prot Q92887: Variant p.Val417Ile

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 417 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 Valine (V) to Isoleucine (I) at position 417 (V417I, p.Val417Ile). 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: Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 3 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 rs2273697 [ dbSNP | Ensembl ]

Sequence information

Variant position: 417 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: MASVYKKALTLSNLARKEYT V GETVNLMSVDAQKLMDVTNF 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
Topological domain	382 – 437	Cytoplasmic
Domain	322 – 605	ABC transmembrane type-1 1
Helix	417 – 420

Literature citations

Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.
Mor-Cohen R.; Zivelin A.; Rosenberg N.; Shani M.; Muallem S.; Seligsohn U.;
J. Biol. Chem. 276:36923-36930(2001)
Cited for: VARIANTS DJS HIS-1150 AND PHE-1173; VARIANTS ASN-281 AND ILE-417; Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects.
Ito S.; Ieiri I.; Tanabe M.; Suzuki A.; Higuchi S.; Otsubo K.;
Pharmacogenetics 11:175-184(2001)
Cited for: VARIANT DJS TRP-768; VARIANTS ILE-417; PHE-789 AND THR-1450; Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.
Okada H.; Kusaka T.; Fuke N.; Kunikata J.; Kondo S.; Iwase T.; Nan W.; Hirota T.; Ieiri I.; Itoh S.;
Pediatr. Int. 56:E62-E62(2014)
Cited for: VARIANT DJS TRP-768; VARIANT ILE-417;