UniProtKB/Swiss-Prot P04280: Variant p.Ser337Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 337 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 Serine (S) to Alanine (A) at position 337 (S337A, p.Ser337Ala). 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 small size and polar (S) to small size and hydrophobic (A) 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: The number of repeats is polymorphic and varies among different alleles. The sequence shown is that of allele L (long). There are allele M (medium) and allele S (short) which contain 12 and 9 approximate tandem repeats respectively. Additional information on the polymorphism described.

Sequence information

Variant position: 337 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 392 The length of the canonical sequence.
Location on the sequence: PPGKPQGPPAQGGSKSQSAR S PPGKPQGPPQQEGNNPQGPP 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	17 – 392	Basic salivary proline-rich protein 1
Chain	275 – 392	Basic peptide IB-6
Chain	337 – 392	Peptide P-H
Region	19 – 392	Disordered
Region	53 – 357	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]-[NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]-[PSR]
Glycosylation	330 – 330	O-linked (HexNAc...) serine

Literature citations

Differential RNA splicing and post-translational cleavages in the human salivary proline-rich protein gene system.
Maeda N.; Kim H.-S.; Azen E.A.; Smithies O.;
J. Biol. Chem. 260:11123-11130(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE M); VARIANT ALA-337; The structure and evolution of the human salivary proline-rich protein gene family.
Kim H.-S.; Lyons K.M.; Saitoh E.; Azen E.A.; Smithies O.; Maeda N.;
Mamm. Genome 4:3-14(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE M); VARIANT ALA-337; Clones from the human gene complex coding for salivary proline-rich proteins.
Azen E.A.; Lyons K.M.; McGonigal T.; Barrett N.L.; Clements L.S.; Maeda N.; Vanin E.F.; Carlson D.M.; Smithies O.;
Proc. Natl. Acad. Sci. U.S.A. 81:5561-5565(1984)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 18-251 AND 300-392 (ALLELE M); VARIANT ALA-337; Length polymorphisms in human proline-rich protein genes generated by intragenic unequal crossing over.
Lyons K.M.; Stein J.H.; Smithies O.;
Genetics 120:267-278(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-392 (ALLELES M AND S); POLYMORPHISM; VARIANT ALA-337; PRBI gene variants coding for length and null polymorphisms among human salivary Ps, PmF, PmS, and Pe proline-rich proteins (PRPs).
Azen E.A.; Latreille P.; Niece R.L.;
Am. J. Hum. Genet. 53:264-278(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-392 (ALLELES L AND M); VARIANT ALA-337;