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UniProtKB/Swiss-Prot P15516: Variant p.Arg41Gln

Histatin-3
Gene: HTN3
Chromosomal location: 4q12-q21
Variant information

Variant position:  41
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

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:  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

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.

TypePositionsDescription
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
Metal binding 34 – 34 Zinc
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.