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UniProtKB/Swiss-Prot P15516 : Variant p.Arg41Gln
Histatin-3
Gene: HTN3
Variant information
Variant position: 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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 Arginine (R) to Glutamine (Q) at position 41 (R41Q, p.Arg41Gln).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 large size and basic (R) to medium size and polar (Q)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 1The 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: There are two alleles of HTN3, HIS2(1) (shown here) and HIS2(2) that codes for the variant histatin-3-2 found primarily and in high frequencies in black populations.Additional information on the polymorphism described.
Variant description: In histatin-3-2; loss of the proteolytic cleavage site.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 51 The length of the canonical sequence.
Location on the sequence:
SHAKRHHGYKRKFHEKHHSH
R GYRSNYLYDN
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
20 – 51
Histatin-3
Peptide
20 – 44
His3-(20-44)-peptide
Peptide
20 – 43
His3-(20-43)-peptide
Peptide
31 – 51
His3-(31-51)-peptide
Peptide
31 – 44
His3-(31-44)-peptide
Peptide
31 – 43
His3-(31-43)-peptide
Peptide
32 – 44
His3-(32-44)-peptide
Peptide
32 – 43
His3-(32-43)-peptide
Peptide
33 – 44
His3-(33-44)-peptide
Peptide
33 – 43
His3-(33-43)-peptide
Peptide
34 – 44
His3-(34-44)-peptide
Peptide
34 – 43
His3-(34-43)-peptide
Region
27 – 51
Disordered
Compositional bias
27 – 41
Basic residues
Binding site
34 – 34
Site
32 – 32
Important for candidacidal activity
Site
41 – 41
Important for candidacidal activity
Site
43 – 43
Not sulfated
Site
47 – 47
Not sulfated
Site
49 – 49
Not sulfated
Mutagenesis
31 – 31
R -> I. No effect on candidacidal activity of His3-(20-43)-peptide.
Mutagenesis
32 – 32
K -> TE. 3-fold reduction in candidacidal activity of His3-(20-43)-peptide.
Mutagenesis
36 – 36
K -> N. No effect on candidacidal activity of His3-(20-43)-peptide.
Mutagenesis
38 – 38
H -> P. No effect on candidacidal activity of His3-(20-43)-peptide.
Mutagenesis
40 – 40
H -> LR. No effect on candidacidal activity of His3-(20-43)-peptide.
Mutagenesis
41 – 41
R -> G. 10-fold reduction in candidacidal activity of His3-(20-43)-peptide; when associated with E-32.
Literature citations
Two coding change mutations in the HIS2(2) allele characterize the salivary histatin 3-2 protein variant.
Sabatini L.M.; Azen E.A.;
Hum. Mutat. 4:12-19(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 20-51; VARIANTS HISTATIN-3-2 GLN-41 AND 47-TYR--ASN-51 DEL; POLYMORPHISM;
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.