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UniProtKB/Swiss-Prot P33527: Variant p.Asn590Ser

Multidrug resistance-associated protein 1
Gene: ABCC1
Variant information

Variant position:  590
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Serine (S) at position 590 (N590S, p.Asn590Ser).
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 small size and polar (S)
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 DFNA77; changes protein subcellular localization expressed in both membrane and cytoplasm; produces unstable mRNA.
Any additional useful information about the variant.



Sequence information

Variant position:  590
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1531
The length of the canonical sequence.

Location on the sequence:   TIDENNILDAQTAFVSLALF  N ILRFPLNILPMVISSIVQAS
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.

TypePositionsDescription
Chain 1 – 1531 Multidrug resistance-associated protein 1
Topological domain 569 – 590 Extracellular
Domain 325 – 608 ABC transmembrane type-1 1
Mutagenesis 580 – 580 Q -> A. No effect.
Mutagenesis 581 – 581 T -> A. No effect.
Mutagenesis 585 – 585 S -> A. No effect.
Mutagenesis 597 – 597 N -> A. Increases resistance to vincristine and decreases resistance to VP-16.
Mutagenesis 604 – 604 S -> A. Increases estradiol glucuronide transport.
Mutagenesis 605 – 605 S -> A. Decreases resistance to vincristine, VP-16 and doxorubicin.


Literature citations

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Li M.; Mei L.; He C.; Chen H.; Cai X.; Liu Y.; Tian R.; Tian Q.; Song J.; Jiang L.; Liu C.; Wu H.; Li T.; Liu J.; Li X.; Yi Y.; Yan D.; Blanton S.H.; Hu Z.; Liu X.; Li J.; Ling J.; Feng Y.;
Genet. Med. 21:2744-2754(2019)
Cited for: INVOLVEMENT IN DFNA77; VARIANTS DFNA77 ASP-231; VAL-296 AND SER-590; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT DFNA77 SER-590; VARIANTS CYS-242; ILE-886; ARG-1007 AND THR-1086;

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.