UniProtKB/SwissProt variant VAR

Variant information

Variant position:

102

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 Valine (V) to Methionine (M) at position 102 (V102M, p.Val102Met).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

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

Variant description:

In PC2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs59977263 [ dbSNP | Ensembl ]

Sequence information

Variant position:

102

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

Protein sequence length:

432

The length of the canonical sequence.

Location on the sequence:

GGEKATMQNLNDRLASYLDK V RALEEANTELEVKIRDWYQR

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                         GGEKATMQNLNDRLASYLDKVRALEEANTELEVKIRDWYQR

Chimpanzee                    GGEKATMQNLNDRLASYLDKVRALEEANTELEVKIRDWYQR

Mouse                         GGEKATMQNLNDRLASYLDKVRALEEANTELEVKIRDWYQK

Rat                           GGEKATMQNLNDRLASYLDKVRALEEANTELEVKIRDWYQK

Bovine                        GGEKATMQNLNDRLASYLDKVRALEEANTELELKIRDWYQK

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 – 432	Keratin, type I cytoskeletal 17
Domain	84 – 395	IF rod
Region	84 – 120	Coil 1A
Region	102 – 116	Peptide epitope S1; induces T-cell and keratinocyte proliferation and IFN-gamma production
Modified residue	110 – 110	Phosphothreonine
Mutagenesis	103 – 103	R -> A. Down-regulates both proliferation of psoriatic T-cells and IFN-gamma production; suppresses keratinocyte growth when part of the altered peptide epitope S1.
Mutagenesis	106 – 106	E -> A. Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S1.
Mutagenesis	109 – 109	N -> A. No significant effect on T-cell proliferation or IFN-gamma production when part of the altered peptide epitope S1.

Literature citations

A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.
Hashiguchi T.; Yotsumoto S.; Shimada H.; Terasaki K.; Setoyama M.; Kobayashi K.; Saheki T.; Kanzaki T.;
J. Invest. Dermatol. 118:545-547(2002)
Cited for: VARIANT PC2 MET-102;

Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.
Uchida T.; Inaoki M.; Makino E.; Fujimoto W.;
J. Dermatol. Sci. 38:60-63(2005)
Cited for: VARIANT PC2 MET-102;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q04695: Variant p.Val102Met