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UniProtKB/Swiss-Prot O43520: Variant p.Arg867Cys

Phospholipid-transporting ATPase IC
Gene: ATP8B1
Variant information

Variant position:  867
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Cysteine (C) at position 867 (R867C, p.Arg867Cys).
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 medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In ICP1; reduces interaction with TMEM30A.
Any additional useful information about the variant.

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



Sequence information

Variant position:  867
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1251
The length of the canonical sequence.

Location on the sequence:   EQRQKNFVDLACECSAVICC  R VTPKQKAMVVDLVKRYKKAI
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                         EQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAI

Mouse                         EQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAI

Rat                           EQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAI

Xenopus tropicalis            EQRQRSFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAV

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 – 1251 Phospholipid-transporting ATPase IC
Topological domain 412 – 949 Cytoplasmic


Literature citations

ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
Muellenbach R.; Bennett A.; Tetlow N.; Patel N.; Hamilton G.; Cheng F.; Chambers J.; Howard R.; Taylor-Robinson S.D.; Williamson C.;
Gut 54:829-834(2005)
Cited for: VARIANT ICP1 CYS-867; VARIANTS ASN-70; ILE-305 AND GLN-952;

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.