UniProtKB/Swiss-Prot O95678: Variant p.Ala161Thr

Keratin, type II cytoskeletal 75
Gene: KRT75
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Variant information Variant position:

161 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 Alanine (A) to Threonine (T) at position 161 (A161T, p.Ala161Thr). 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 hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

The Thr-161 variant may increase risk to develop pseudofolliculitis barbae (PFB) [MIM:612318]. PFB is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males. Additional information on the polymorphism described.
Variant description:

May increase risk to develop PFB; the variant is disruptive at late stages of filament assembly compromising the aggregation of keratin molecules into intermediate filaments. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2232387 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TIQRVRAEEREQIKTLNNKF A SFIDKVRFLEQQNKVLETKW 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                         TIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKW

Mouse                         TIQRVRKEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKW

Rat                           TIQRVRKEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKW

Bovine                        NIQRVRKEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKW

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 – 551	Keratin, type II cytoskeletal 75
Domain	149 – 462	IF rod
Region	149 – 184	Coil 1A

Literature citations
An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae.
Winter H.; Schissel D.; Parry D.A.D.; Smith T.A.; Liovic M.; Birgitte Lane E.; Edler L.; Langbein L.; Jave-Suarez L.F.; Rogers M.A.; Wilde J.; Peters G.; Schweizer J.;
J. Invest. Dermatol. 122:652-657(2004)
Cited for: VARIANT THR-161; CHARACTERIZATION OF VARIANT THR-161; ASSOCIATION WITH INCREASED RISK TO DEVELOP PFB;

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.