UniProtKB/SwissProt variant VAR

Variant information

Variant position:

327

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 Methionine (M) to Threonine (T) at position 327 (M327T, p.Met327Thr).

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 (M) to medium size and polar (T)

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 WC-EBS.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs58072617 [ dbSNP | Ensembl ]

Sequence information

Variant position:

327

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:

FDAELSQMQTHVSDTSVVLS M DNNRNLDLDSIIAEVKAQYE

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                         FDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYE

Chimpanzee                    FDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYE

Mouse                         FDAELSQMQTHVSDTSVVLSMDNNRSLDLDSIIAEVKAQYE

Rat                           FDAELSQMQTHVSDTSVVLSMDNNRSLDLDSIIAEVKAQYE

Bovine                        FDAELSQMQTHVSDTSVVLSMDNNRSLDLDSIIAEVKAQYE

Xenopus laevis                YEAELRELQEQISDTSVVLSMDNNRALDMDSIIAEVKAQYE

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 – 590	Keratin, type II cytoskeletal 5
Domain	168 – 481	IF rod
Region	316 – 338	Linker 12

Literature citations

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
Chan Y.-M.; Yu Q.-C.; LeBlanc-Straceski J.; Christiano A.; Pulkkinen L.; Kucherlapati R.S.; Uitto J.; Fuchs E.;
J. Cell Sci. 107:765-774(1994)
Cited for: VARIANTS WC-EBS THR-327 AND LYS-329;

Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
Humphries M.M.; Mansergh F.C.; Kiang A.-S.; Jordan S.A.; Sheils D.M.; Martin M.J.; Farrar G.J.; Kenna P.F.; Young M.M.; Humphries P.;
Hum. Mutat. 8:57-63(1996)
Cited for: VARIANTS WC-EBS LYS-193 AND THR-327;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13647: Variant p.Met327Thr