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UniProtKB/Swiss-Prot Q9NUT2: Variant p.Val152Ile

Mitochondrial potassium channel ATP-binding subunit
Gene: ABCB8
Variant information

Variant position:  152
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 Valine (V) to Isoleucine (I) at position 152 (V152I, p.Val152Ile).
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.



Sequence information

Variant position:  152
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  735
The length of the canonical sequence.

Location on the sequence:   FNWKLFWQFLHPHLLVLGVA  V VLALGAALVNVQIPLLLGQL
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                         FNWKLFWQFLHPHLLVLGVAVVLALGAALVNVQIPLLLGQL

Mouse                         FNWKLFWHFLHPHLLALGAAIVLALGAALVNVQIPLLLGQL

Rat                           FKWKLFWHFLHPHLLALGLAIVLALGAALVNVQIPLLLGQL

Xenopus tropicalis            FNWAEFWKLLRPQLIALLTAVLLAFGAALLNIRIPLMLGEL

Zebrafish                     FSWAVLWEFVRPQLFALMGAILLAFGAAALNIQIPLMLGDL

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 26 – 735 Mitochondrial potassium channel ATP-binding subunit
Transmembrane 145 – 165 Helical
Domain 150 – 437 ABC transmembrane type-1
Alternative sequence 1 – 187 Missing. In isoform 5.
Alternative sequence 1 – 153 MLVHLFRVGIRGGPFPGRLLPPLRFQTFSAVRNTWRNGKTGQLHKAEGEYSDGYRSSSLLRAVAHLRSQLWAHLPRAPLAPRWSPSAWCWVGGALLGPMVLSKHPHLCLVALCEAEEAPPASSTPHVVGSRFNWKLFWQFLHPHLLVLGVAVV -> MRVKLLLPAAPVLPRQHAGAFISGRDSGWPIPRQAATAPPLPDILSCQ. In isoform 4.
Helix 145 – 171


Literature citations

Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population.
Saito S.; Iida A.; Sekine A.; Miura Y.; Ogawa C.; Kawauchi S.; Higuchi S.; Nakamura Y.;
J. Hum. Genet. 47:38-50(2002)
Cited for: VARIANT ILE-152;

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.