Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43520: Variant p.Ile661Thr

Phospholipid-transporting ATPase IC
Gene: ATP8B1
Feedback?
Variant information Variant position: help 661 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 Isoleucine (I) to Threonine (T) at position 661 (I661T, p.Ile661Thr). 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 medium size and hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 661 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 DALDIFANETLRTLCLCYKE I EEKEFTEWNKKFMAASVAST 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                         DALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVAST

Mouse                         DALDIFASETLRTLCLCYKEIEEKEFTEWNNKFMAASVASS

Rat                           DALDIFASETLRTLCLCYKEIEEKEFAEWNKKFMAASVASS

Xenopus tropicalis            KALDIFANASLRTLCLCYKDINKGDFENWSKKYKQASVATS
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 652 – 652
Beta strand 652 – 661



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; Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.
Tygstrup N.; Steig B.A.; Juijn J.A.; Bull L.N.; Houwen R.H.J.;
Hepatology 29:506-508(1999)
Cited for: VARIANT BRIC1 THR-661; 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; Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
Folmer D.E.; van der Mark V.A.; Ho-Mok K.S.; Oude Elferink R.P.; Paulusma C.C.;
Hepatology 50:1597-1605(2009)
Cited for: CHARACTERIZATION OF VARIANTS PFIC1 VAL-308; ASN-554; THR-661 AND ARG-1040; CHARACTERIZATION OF VARIANTS BRIC1 ASN-70 AND THR-661; CHARACTERIZATION OF VARIANT ICP1 CYS-867; MUTAGENESIS OF ASP-454;
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.