UniProtKB/Swiss-Prot Q9BYQ7: Variant p.Ala134Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 134 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 134 (A134T, p.Ala134Thr). 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: Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments (PubMed:15955084). Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs398825 [ dbSNP | Ensembl ]

Sequence information

Variant position: 134 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 146 The length of the canonical sequence.
Location on the sequence: PSCGVSSCCRPLCCQTTCCR A TCCRPSCCGSSC 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.
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 – 146	Keratin-associated protein 4-1
Repeat	131 – 135	16
Region	5 – 145	18 X 5 AA repeats of C-C-[GRQC]-[SPT]-[VSTL]

Literature citations

Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21.
Rogers M.A.; Langbein L.; Winter H.; Ehmann C.; Praetzel S.; Korn B.; Schweizer J.;
J. Biol. Chem. 276:19440-19451(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ARG-66 AND THR-134; 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 ARG-66 AND THR-134; Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family.
Kariya N.; Shimomura Y.; Ito M.;
J. Invest. Dermatol. 124:1111-1118(2005)
Cited for: TISSUE SPECIFICITY; POLYMORPHISM; VARIANT 83-CYS--SER-101 DEL; VARIANTS ARG-66; ARG-115 AND THR-134;