Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95255: Variant p.Arg1314Trp

ATP-binding cassette sub-family C member 6
Gene: ABCC6
Feedback?
Variant information Variant position: help 1314 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 1314 (R1314W, p.Arg1314Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In GACI2 and PXE. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1314 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1503 The length of the canonical sequence.
Location on the sequence: help KVGIVGRTGAGKSSLASGLL R LQEAAEGGIWIDGVPIAHVG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KVGIVGRTGAGKSSLASGLLRLQEAAEGGIWIDGVPIAHVG

Mouse                         KVGIVGRTGAGKSSLAWGLLRLQEAAEGNIWIDGVPITHVG

Rat                           KVGIVGRTGAGKSSLTWGLLRLQEATEGGIWIDGVPITDMG
Sequence annotation in neighborhood: help 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 ATP-binding cassette sub-family C member 6
Topological domain 1220 – 1503 Cytoplasmic
Domain 1265 – 1499 ABC transporter 2
Alternative sequence 100 – 1503 Missing. In isoform 2.
Alternative sequence 872 – 1503 Missing. In isoform 3.



Literature citations
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Le Saux O.; Urban Z.; Tschuch C.; Csiszar K.; Bacchelli B.; Quaglino D.; Pasquali-Ronchetti I.; Pope F.M.; Richards A.; Terry S.; Bercovitch L.; de Paepe A.; Boyd C.D.;
Nat. Genet. 25:223-227(2000)
Cited for: VARIANTS PXE PRO-1114; GLN-1138 AND TRP-1314; VARIANT ALA-614; 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; Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner E.G.; Vanakker O.M.; Terry S.F.; Vourthis S.; McAndrew P.E.; McClain M.R.; Fratta S.; Marais A.S.; Hariri S.; Coucke P.J.; Ramsay M.; Viljoen D.; Terry P.F.; De Paepe A.; Uitto J.; Bercovitch L.G.;
J. Med. Genet. 44:621-628(2007)
Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; ARG-317; ARG-364; TRP-382; GLY-391; ASN-392; HIS-463; HIS-495; GLN-518; PRO-535; SER-568; CYS-600; CYS-663; PRO-698; ASP-699; PRO-726; LYS-751; ARG-755; TRP-760; GLN-765; ASN-777; MET-811; SER-881; ILE-944; THR-950; ARG-992; CYS-1114; MET-1130; ALA-1133; GLN-1138; TRP-1138; THR-1139; GLN-1164; CYS-1221; HIS-1221; ILE-1226; PHE-1298; ARG-1302; PRO-1303; GLN-1314; TRP-1314; GLN-1335; CYS-1339; HIS-1339 AND THR-1342; Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y.; Baujat G.; Botschen U.; Wittkampf T.; du Moulin M.; Stella J.; Le Merrer M.; Guest G.; Lambot K.; Tazarourte-Pinturier M.F.; Chassaing N.; Roche O.; Feenstra I.; Loechner K.; Deshpande C.; Garber S.J.; Chikarmane R.; Steinmann B.; Shahinyan T.; Martorell L.; Davies J.; Smith W.E.; Kahler S.G.; McCulloch M.; Wraige E.; Loidi L.; Hohne W.; Martin L.; Hadj-Rabia S.; Terkeltaub R.; Rutsch F.;
Am. J. Hum. Genet. 90:25-39(2012)
Cited for: VARIANTS GACI2 ARG-355; GLY-391; PHE-590; PHE-1036 DEL; CYS-1114; HIS-1221 AND TRP-1314;
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.