UniProtKB/Swiss-Prot P13645: Variant p.Ile101Ser

Keratin, type I cytoskeletal 10
Gene: KRT10
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Variant information Variant position:

101 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 Isoleucine (I) to Serine (S) at position 101 (I101S, p.Ile101Ser). 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 medium size and hydrophobic (I) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Polymorphism:

A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs4261597 [ dbSNP | Ensembl ]

Sequence information Variant position:

101 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

584 The length of the canonical sequence.
Location on the sequence:

GGGSFRGSYGSSSFGGSYGG I FGGGSFGGGSFGGGSFGGGG 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                         GGGSFRGSYGSSSFGGSYGGIFGGGSFGGGSFGGGS-FGGGG

                              GGGNFGGGYGSSSFGGGY----GGVSFGGGSFGGGS-FGGG

Mouse                         GGSSFGGGYGGSSFGGGY----GGSSFGGAGFGGGGSFGGG

Rat                           GGGSFGGGYGGGSFGGGY----GGGSFGGG-YGGGS-FGGG

Bovine                        GSG-FGGGYG-SSFGGSY----GG-SFGGG-YGGGG-FGGG

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.

Type	Positions	Description
Chain	1 – 584	Keratin, type I cytoskeletal 10
Region	1 – 145	Head

Literature citations
The complete sequence of the human intermediate filament chain keratin 10. Subdomainal divisions and model for folding of end domain sequences.
Zhou X.M.; Idler W.W.; Steven A.C.; Roop D.R.; Steinert P.M.;
J. Biol. Chem. 263:15584-15589(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS SER-101 AND TYR-487; 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)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS SER-101 AND TYR-487;

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.