UniProtKB/Swiss-Prot O95255: Variant p.Ile319Val

Multidrug resistance-associated protein 6
Gene: ABCC6
Chromosomal location: 16p13.1
Variant information

Variant position:  319
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 Isoleucine (I) to Valine (V) at position 319 (I319V, p.Ile319Val).
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:  319
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1503
The length of the canonical sequence.

Location on the sequence:   LLKAIWQVFHSTFLLGTLSL  I ISDVFRFTVPKLLSLFLEFI
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                         LLKAIWQVFHSTFLLGTLSLIISDVFRFTVPKLLSLFLEFI

Mouse                         LLRAIWRVFRSTFLLGTLSLVISDAFRFAVPKLLSLFLEFM

Rat                           LLRAIWRVFRSTFLLGTLSLVISDAFRFAVPKLLSLFLEFM

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 – 1503 Multidrug resistance-associated protein 6
Transmembrane 303 – 323 Helical; Name=6
Domain 311 – 593 ABC transmembrane type-1 1
Alternative sequence 100 – 1503 Missing. In isoform 2.


Literature citations

Identification of a new splice variant of the human ABCC6 transporter.
Armentano M.F.; Ostuni A.; Infantino V.; Iacobazzi V.; Castiglione Morelli M.A.; Bisaccia F.;
Biochem. Res. Int. 2008:912478-912478(2008)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3); VARIANTS VAL-319 AND VAL-848; ALTERNATIVE SPLICING;

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O.; Beck K.; Sachsinger C.; Silvestri C.; Treiber C.; Goering H.H.H.; Johnson E.W.; De Paepe A.; Pope F.M.; Pasquali-Ronchetti I.; Bercovitch L.; Terry S.; Boyd C.D.;
Am. J. Hum. Genet. 69:749-764(2001)
Cited for: VARIANTS PXE LYS-411; GLN-518; SER-568; PRO-673; GLN-765; PRO-1114; TRP-1121; PRO-1138; GLN-1138; ASP-1203; PHE-1298; ILE-1301; ARG-1302; PRO-1303; GLN-1314; TRP-1314; SER-1321; CYS-1339; HIS-1347; ASN-1361 AND THR-1424; VARIANTS ASP-61; ARG-207; GLY-265; GLU-281; VAL-319; LYS-497; ALA-614; GLN-632; HIS-953; CYS-1241 AND GLN-1268;

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S.; Lumsden A.; Guenther U.P.; Foernzler D.; Christen-Zach S.; Daugherty C.; Ramesar R.K.; Lebwohl M.; Hohl D.; Neldner K.H.; Lindpaintner K.; Richards R.I.; Struk B.;
Hum. Mutat. 26:235-248(2005)
Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; GLU-129; ARG-317; ARG-355; ARG-364; ASP-370; GLY-391; GLY-398; HIS-495; GLN-518; SER-551; VAL-594; PRO-677; TRP-760; GLN-765; GLN-807; TRP-807; GLU-1056; PHE-1036 DEL; PHE-1048 DEL; CYS-1114; LEU-1121; GLN-1138; TRP-1138; GLN-1164; CYS-1221; TRP-1235; ARG-1302; PRO-1303; GLN-1314; CYS-1339; LEU-1339 AND TRP-1357; VARIANTS THR-78; LYS-125; VAL-158; GLY-265; GLU-281; VAL-319; ILE-514; ALA-614; GLN-632; LYS-724; VAL-742; ILE-946; TRP-1064 AND GLN-1268;

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.