UniProtKB/SwissProt variant VAR

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.

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
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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15516: Variant p.Arg41Gln