UniProtKB/Swiss-Prot P21439: Variant p.Arg652Gly

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 652 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Arginine (R) to Glycine (G) at position 652 (R652G, p.Arg652Gly). 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 large size and basic (R) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2 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.

• Variant rs2230028 [ dbSNP | Ensembl ]

Sequence information

Variant position: 652 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1286 The length of the canonical sequence.
Location on the sequence: TSGSQIQSEEFELNDEKAAT R MAPNGWKSRLFRHSTQKNLK 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.

Type	Positions	Description
Chain	1 – 1286	Phosphatidylcholine translocator ABCB4
Topological domain	355 – 711	Cytoplasmic

Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GBD1 ASP-528 AND GLN-788; VARIANTS VAL-238; VAL-263; GLN-590; ASN-651 AND GLY-652; The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.
Jacquemin E.; De Vree J.M.L.; Cresteil D.; Sokal E.M.; Sturm E.; Dumont M.; Scheffer G.L.; Paul M.; Burdelski M.; Bosma P.J.; Bernard O.; Hadchouel M.; Elferink R.P.;
Gastroenterology 120:1448-1458(2001)
Cited for: VARIANTS PFIC3 ARG-138; ILE-346; GLY-395; ALA-424; MET-425; PHE-541; ARG-556; GLY-564; SER-711 AND SER-983; VARIANT GLY-652; ABCB4 gene mutation-associated cholelithiasis in adults.
Rosmorduc O.; Hermelin B.; Boelle P.Y.; Parc R.; Taboury J.; Poupon R.;
Gastroenterology 125:452-459(2003)
Cited for: VARIANTS GBD1 ILE-165; THR-301; PHE-320; ASP-528; GLN-591; GLN-788 AND SER-1168; VARIANTS ALA-175; GLN-590; GLY-652; SER-742 AND THR-934; ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.
Muellenbach R.; Linton K.J.; Wiltshire S.; Weerasekera N.; Chambers J.; Elias E.; Higgins C.F.; Johnston D.G.; McCarthy M.I.; Williamson C.;
J. Med. Genet. 40:E70-E70(2003)
Cited for: VARIANT ICP3 LYS-150; VARIANT GLY-652; Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.
Pauli-Magnus C.; Lang T.; Meier Y.; Zodan-Marin T.; Jung D.; Breymann C.; Zimmermann R.; Kenngott S.; Beuers U.; Reichel C.; Kerb R.; Penger A.; Meier P.J.; Kullak-Ublick G.A.;
Pharmacogenetics 14:91-102(2004)
Cited for: VARIANTS ALA-175; GLY-652 AND MET-775; VARIANTS ICP3 PHE-320; ASP-528 AND GLU-762; Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).
Lang T.; Haberl M.; Jung D.; Drescher A.; Schlagenhaufer R.; Keil A.; Mornhinweg E.; Stieger B.; Kullak-Ublick G.A.; Kerb R.;
Drug Metab. Dispos. 34:1582-1599(2006)
Cited for: VARIANTS GLU-87; SER-95; ALA-175; VAL-367; GLY-450; GLN-590 AND GLY-652; Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.
Lang C.; Meier Y.; Stieger B.; Beuers U.; Lang T.; Kerb R.; Kullak-Ublick G.A.; Meier P.J.; Pauli-Magnus C.;
Pharmacogenet. Genomics 17:47-60(2007)
Cited for: VARIANTS ALA-175; GLN-590; GLY-652; LEU-764 AND GLN-1082; A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.
Tavian D.; Degiorgio D.; Roncaglia N.; Vergani P.; Cameroni I.; Colombo R.; Coviello D.A.;
Dig. Liver Dis. 41:671-675(2009)
Cited for: VARIANTS GLN-590 AND GLY-652; Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C.; Vajro P.; Degiorgio D.; Coviello D.A.; Costantino L.; Tornillo L.; Motta V.; Consonni D.; Maggiore G.; Balli F.; Berardi S.; Calacoci M.; Castellano E.; Marazzi M.G.; Gaslini G.; D'Antiga L.; Ferretti E.; Giannini A.; Indolfi G.; Iorio R.; Martelossi S.; Moretti C.; Nebbia G.; Oliveri F.; Poggiani C.; Raggi M.; Riva S.; Sciveres M.; Torre G.; Zancan L.;
J. Pediatr. Gastroenterol. Nutr. 52:73-83(2011)
Cited for: VARIANTS PFIC3 ARG-70; VAL-73; PHE-320 AND HIS-403; VARIANT GLY-652;