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UniProtKB/Swiss-Prot O95255: Variant p.Thr1130Met

Multidrug resistance-associated protein 6
Gene: ABCC6
Variant information

Variant position:  1130
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Threonine (T) to Methionine (M) at position 1130 (T1130M, p.Thr1130Met).
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 (T) to medium size and hydrophobic (M)
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 PXE; autosomal recessive.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1130
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:   CQLRRLESASYSSVCSHMAE  T FQGSTVVRAFRTQAPFVAQN
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                         CQLRRLESASYSSVCSHMAETFQGSTVVRAFRTQAPFVAQN

Mouse                         CQLRRLESARYSSVCSHMAETFQGSLVVRAFRAQASFTAQH

Rat                           CQLRRLESASYSSVCSHLAETFQGSQVVRAFQAQGPFTAQH

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
Topological domain 1105 – 1175 Cytoplasmic
Domain 947 – 1228 ABC transmembrane type-1 2
Alternative sequence 100 – 1503 Missing. In isoform 2.
Alternative sequence 872 – 1503 Missing. In isoform 3.


Literature citations

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Gheduzzi D.; Guidetti R.; Anzivino C.; Tarugi P.; Di Leo E.; Quaglino D.; Ronchetti I.P.;
Hum. Mutat. 24:438-439(2004)
Cited for: VARIANTS PXE ARG-364; LYS-411; GLY-440; GLN-518; CYS-600; MET-810; PRO-820; CYS-1114; MET-1130; GLN-1138; CYS-1339; SER-1346 AND LYS-1400;

Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N.; Martin L.; Mazereeuw J.; Barrie L.; Nizard S.; Bonafe J.L.; Calvas P.; Hovnanian A.;
J. Invest. Dermatol. 122:608-613(2004)
Cited for: VARIANTS PXE VAL-74 DEL; 363-GLN--ARG-373 DEL; GLY-391; GLN-518; ASP-766; MET-1130; GLN-1138 HIS-1238; PRO-1335 AND LYS-1400;

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;

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.