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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43520: Variant p.Gly892Arg

Phospholipid-transporting ATPase IC
Gene: ATP8B1
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Variant information Variant position: help 892 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 Glycine (G) to Arginine (R) at position 892 (G892R, p.Gly892Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In PFIC1 and BRIC1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 892 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1251 The length of the canonical sequence.
Location on the sequence: help QKAMVVDLVKRYKKAITLAI G DGANDVNMIKTAHIGVGISG 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                         QKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISG

Mouse                         QKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISG

Rat                           QKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGISG

Xenopus tropicalis            QKAMVVDLVKRYKKAVTLAIGDGANDVNMIKTAHIGVGISG
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 – 1251 Phospholipid-transporting ATPase IC
Topological domain 412 – 949 Cytoplasmic
Binding site 873 – 873
Binding site 893 – 893
Binding site 896 – 896
Binding site 897 – 897
Binding site 897 – 897
Beta strand 888 – 892



Literature citations
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
Bull L.N.; van Eijk M.J.T.; Pawlikowska L.; DeYoung J.A.; Juijn J.A.; Liao M.; Klomp L.W.J.; Lomri N.; Berger R.; Scharschmidt B.F.; Knisely A.S.; Houwen R.H.J.; Freimer N.B.;
Nat. Genet. 18:219-223(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS PFIC1 SER-288; VAL-308; 645-ILE--ILE-699 DEL AND ARG-892; VARIANTS BRIC1 THR-661 AND 795-GLY--ARG-797 DEL; VARIANT THR-1152; Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp L.W.J.; Vargas J.C.; van Mil S.W.C.; Pawlikowska L.; Strautnieks S.S.; van Eijk M.J.T.; Juijn J.A.; Pabon-Pena C.; Smith L.B.; DeYoung J.A.; Byrne J.A.; Gombert J.; van der Brugge G.; Berger R.; Jankowska I.; Pawlowska J.; Villa E.; Knisely A.S.; Thompson R.J.; Freimer N.B.; Houwen R.H.J.; Bull L.N.;
Hepatology 40:27-38(2004)
Cited for: VARIANTS PFIC1 PRO-127; TYR-403; PRO-412; MET-456; HIS-500; PHE-529 DEL; LEU-535; ASN-554; THR-661; GLY-688; ARG-733; SER-853; ARG-892 AND ARG-1040; VARIANTS BRIC1 ASN-70; ASP-308; PHE-344; TYR-453; GLY-454; TRP-600; GLN-600; TRP-628; THR-661; THR-694 AND ARG-892; VARIANT ALA-429;
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.