UniProtKB/Swiss-Prot P15516: Variant p.Arg41Gln

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 41 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 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.

• Variant rs1136511 [ dbSNP | Ensembl ]

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	22 – 22	H -> A. Decreased antifugal activity of His3-(20-43)-peptide against C. albicans in the presense of copper.
Mutagenesis	30 – 30	K -> R. Decreased proteolysis of His3-(20-43)-peptide by C. albicans SAP2 and SAP9; when associated with R-36. Increased antifugal activity of His3-(20-43)-peptide against C. albicans; when associated with R-36.
Mutagenesis	31 – 31	R -> I. No effect on candidacidal activity of His3-(20-43)-peptide.
Mutagenesis	32 – 32	K -> E. Increased proteolysis of His3-(20-43)-peptide by C. albicans SAP9. No susceptibility to C. albicans SAP2. Decreased antifugal activity of His3-(20-43)-peptide against C. albicans.
Mutagenesis	32 – 32	K -> H. Increased proteolysis of His3-(20-43)-peptide by C. albicans SAP9. No susceptibility to C. albicans SAP2. No change in antifugal activity of His3-(20-43)-peptide against C. albicans.
Mutagenesis	32 – 32	K -> T. 3-fold reduction in candidacidal activity of His3-(20-43)-peptide.
Mutagenesis	35 – 35	E -> L. Increased proteolysis of His3-(20-43)-peptide by C. albicans SAP2 and SAP9. Increased antifugal activity of His3-(20-43)-peptide against C. albicans.
Mutagenesis	35 – 35	E -> R. Decreased proteolysis of His3-(20-43)-peptide by C. albicans SAP2; increased proteolysis by C. albicans SAP9. Increased antifugal activity of His3-(20-43)-peptide against C. albicans.
Mutagenesis	36 – 36	K -> N. No effect on candidacidal activity of His3-(20-43)-peptide.
Mutagenesis	36 – 36	K -> R. Decreased proteolysis of His3-(20-43)-peptide by C. albicans SAP2 and SAP9; when associated with R-30. Increased antifugal activity of His3-(20-43)-peptide against C. albicans; when associated with R-30.
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;