Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43520: Variant p.Ile344Phe

Phospholipid-transporting ATPase IC
Gene: ATP8B1
Feedback?
Variant information Variant position: help 344 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 Phenylalanine (F) at position 344 (I344F, p.Ile344Phe). 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 large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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; loss of PC flippase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 344 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 GKTRFKRTKIDYLMNYMVYT I FVVLILLSAGLAIGHAYWEA 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                         GKTRFKRTKIDYLMNYMVYTIFVVLILLSAGLAIGHAYWEA

Mouse                         GKTRFKRTKIDYLMNYMVYTIFIVLILVSAGLAIGHAYWEA

Rat                           GKTRFKRTKIDYLMNYMVYTIIIVLILVSAGLAIGHAYWEA

Xenopus tropicalis            GKTRLKRTKIDYLMNYMVYTIFVLLILAAAGLAIGQTFWEA
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
Transmembrane 341 – 362 Helical
Helix 332 – 365



Literature citations
Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane.
Takatsu H.; Tanaka G.; Segawa K.; Suzuki J.; Nagata S.; Nakayama K.; Shin H.W.;
J. Biol. Chem. 289:33543-33556(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; MUTAGENESIS OF GLU-234; VARIANTS BRIC1 ASN-70 AND PHE-344; VARIANT PFIC1 PRO-127; 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.