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UniProtKB/Swiss-Prot P13647: Variant p.Ser79Arg

Keratin, type II cytoskeletal 5
Gene: KRT5
Variant information

Variant position:  79
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Serine (S) to Arginine (R) at position 79 (S79R, p.Ser79Arg).
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 small size and polar (S) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

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



Sequence information

Variant position:  79
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  590
The length of the canonical sequence.

Location on the sequence:   GYGSRSLYNLGGSKRISIST  S GGSFRNRFGAGAGGGYGFGG
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                         GYGSRSLYNLGGSKR-ISISTSGGSFRNRF--GAGAGGGYGFGG

Chimpanzee                    GYGSRSLYNLGGSKW-ISISTSGGSFRNRFGAGAGAGGGYG

Mouse                         GYGSRSLYNVGGSKR-ISYSSGGGSFRNQF--GAG---GFG

Rat                           GYGSRSLYNVGGSKR-ISFSSGGGSFRNQF--GAGAGGGYG

Bovine                        GFGSRSLYNLGGSKR-ISISASGGGFRNRF--GAGAGGGYG

Xenopus laevis                NFSSSSLSNLGSVKRSVSYGV-----------SSGRSGGAG

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 – 590 Keratin, type II cytoskeletal 5
Region 1 – 167 Head
Compositional bias 39 – 139 Gly-rich
Modified residue 64 – 64 Phosphoserine
Modified residue 71 – 71 Phosphoserine
Modified residue 75 – 75 Phosphoserine
Modified residue 82 – 82 Phosphoserine


Literature citations

The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins.
Eckert R.L.; Rorke E.A.;
DNA 7:337-345(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ARG-79 AND THR-387;

Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.
Whittock N.V.; Eady R.A.J.; McGrath J.A.;
Biochem. Biophys. Res. Commun. 274:149-152(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-79 AND THR-387;

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.