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UniProtKB/Swiss-Prot P05787: Variant p.Gly62Cys

Keratin, type II cytoskeletal 8
Gene: KRT8
Variant information

Variant position:  62
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 Glycine (G) to Cysteine (C) at position 62 (G62C, p.Gly62Cys).
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 glycine (G) 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 CIRRH.
Any additional useful information about the variant.

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

Sequence information

Variant position:  62
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  483
The length of the canonical sequence.

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                         GSSN--FRGGLG---------GGYGGASGMG---------GITAVTVNQSLLSPLVLEVDP

Mouse                         GSSSSSFRGSMGTGVGL----GGFGGA-GVG---------G

Rat                           GSSSSSFRGSLG----------GFGGA-GVG---------G

Bovine                        GSSS-SFRGGLGTGMSM---AGSYGGAPGLG---------G

Xenopus laevis                GSS---YGGASRFGSGY---RSGFGGA-GVGS-------AG


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.

Chain 1 – 483 Keratin, type II cytoskeletal 8
Region 1 – 90 Head
Modified residue 43 – 43 Phosphoserine
Modified residue 44 – 44 Phosphoserine
Modified residue 47 – 47 Asymmetric dimethylarginine; alternate
Modified residue 47 – 47 Omega-N-methylarginine; alternate
Modified residue 74 – 74 Phosphoserine; by MAPK
Mutagenesis 72 – 72 L -> P. Increases phosphorylation.
Mutagenesis 74 – 74 S -> A. Generates normal-appearing filaments, that remain stable after okadaic acid treatment.
Mutagenesis 74 – 74 S -> D. Generates normal-appearing filaments, that are destabilized by okadaic acid.

Literature citations

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)

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)

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.