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UniProtKB/Swiss-Prot P05783: Variant p.His128Leu

Keratin, type I cytoskeletal 18
Gene: KRT18
Variant information Variant position: help 128 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 Histidine (H) to Leucine (L) at position 128 (H128L, p.His128Leu). 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 polar (H) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CIRRH; interfers with the ability to form normal filaments. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 128 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 430 The length of the canonical sequence.
Location on the sequence: help LESKIREHLEKKGPQVRDWS H YFKIIEDLRAQIFANTVDNA 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.





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.
Chain 2 – 430 Keratin, type I cytoskeletal 18
Domain 80 – 391 IF rod
Region 70 – 373 Necessary for interaction with PNN
Region 77 – 128 Interaction with TRADD
Region 116 – 132 Linker 1
Modified residue 131 – 131 N6-acetyllysine

Literature citations
Mutation of human keratin 18 in association with cryptogenic cirrhosis.
Ku N.-O.; Wright T.L.; Terrault N.A.; Gish R.; Omary M.B.;
J. Clin. Invest. 99:19-23(1997)
Cited for: VARIANT CIRRH LEU-128; Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.
Ku N.-O.; Darling J.M.; Krams S.M.; Esquivel C.O.; Keeffe E.B.; Sibley R.K.; Lee Y.M.; Wright T.L.; Omary M.B.;
Proc. Natl. Acad. Sci. U.S.A. 100:6063-6068(2003)
Cited for: VARIANTS CIRRH ALA-103; LEU-128; GLN-261 AND ARG-340; VARIANT THR-230;
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.