UniProtKB/Swiss-Prot Q9BYR0 : Variant p.Asp18Val
Keratin-associated protein 4-7
Gene: KRTAP4-7
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Variant information
Variant position:
18
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 Aspartate (D) to Valine (V) at position 18 (D18V, p.Asp18Val).
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 acidic (D) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-3
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 variants are present in KRTAP4 gene family, mainly within cysteine-rich repeat segments. The sequence shown in this entry corresponds to variant KAP4.7-v1.
Additional information on the polymorphism described.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
18
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
155
The length of the canonical sequence.
Location on the sequence:
MVSSCCGSVCSDQGCSQ
D LCQETCCRPSCCQTTCCRTT
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 – 155
Keratin-associated protein 4-7
Region
5 – 123
20 X 5 AA repeats of C-C-[GIKRQVHEML]-[SPTRV]-[STVQRCP]
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 GLY-16; VAL-18; SER-68 AND CYS-113;
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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; TISSUE SPECIFICITY; POLYMORPHISM; VARIANTS GLY-16; VAL-18; SER-68; HIS-PRO-SER-CYS-CYS-ILE-SER-SER-CYS-CYS-ARG-PRO-SER-CYS-CYS-VAL-SER-ARG-CYS-CYS-ARG-PRO-GLN-CYS-CYS-GLN-SER-VAL-CYS-CYS-GLN-PRO-THR-CYS-CYS-ARG-PRO-SER-CYS-CYS-ILE-SER-SER-CYS-CYS-ARG-PRO-SER-CYS-CYS-GLU-SER-SER-CYS-CYS-110 INS; CYS-113 AND CYS-CYS-ILE-SER-SER-CYS-CYS-ARG-PRO-SER-CYS-CYS-VAL-SER-ARG-CYS-CYS-ARG-PRO-GLN-CYS-CYS-GLN-SER-VAL-CYS-CYS-GLN-PRO-THR-113 INS;
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 GLY-16; VAL-18; SER-68 AND CYS-113;
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.