UniProtKB/Swiss-Prot P15927: Variant p.Tyr14Ser

Replication protein A 32 kDa subunit
Gene: RPA2
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Variant information Variant position:

14 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 Tyrosine (Y) to Serine (S) at position 14 (Y14S, p.Tyr14Ser). 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 aromatic (Y) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Other resources:

Links to websites of interest for the variant.

Variant rs28988896 [ dbSNP | Ensembl ]

Sequence information Variant position:

14 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

270 The length of the canonical sequence.
Location on the sequence:

MWNSGFESYGSSS Y GGAGGYTQSPGGFGSPAPSQ 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.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         MWNS--GFE-SYG-------SSSYGGAGGYTQSPGGFGSPAPSQ

Mouse                         MWNS--GFE-SFS-------SSTYGGAGGYTQSP

Rat                           MWNS--GFE-SFS-------SSSYGAAGGYTQSP

Xenopus tropicalis            MWNNHGGFDGGYG-------GSGMGG-GGYMQSP

Baker's yeast                 MA----TYQ-PYN-----EYSSVTGG--GFENS-

Fission yeast                 MAYDAFGKP-GYGPDFNSAFSPGMGGGAGFNEY-

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	1 – 270	Replication protein A 32 kDa subunit
Modified residue	1 – 1	N-acetylmethionine
Modified residue	4 – 4	Phosphoserine; by PRKDC
Modified residue	8 – 8	Phosphoserine; by PRKDC
Modified residue	21 – 21	Phosphothreonine; by PRKDC
Modified residue	23 – 23	Phosphoserine; by CDK2
Modified residue	29 – 29	Phosphoserine; by CDK1
Modified residue	33 – 33	Phosphoserine; by PRKDC
Mutagenesis	4 – 4	S -> A. Increased RAD51 foci formation and homologous recombination efficiency at DNA double-strand breaks; when associated with A-8.
Mutagenesis	8 – 8	S -> A. Increased RAD51 foci formation and homologous recombination efficiency at DNA double-strand breaks; when associated with A-4.
Mutagenesis	8 – 8	S -> D. Lower homologous recombination efficiency following DNA double strand break. Impaired DNA synthesis following DNA damage; when associated with D-33. No effect on cell-cycle progression, nor DNA synthesis in undamaged cells; when associated with D-23; D-29 and D-33. Impaired DNA double strand breaks repair; when associated with D-23; D-29 and D-33. Extended DNA damage-induced G2-M checkpoint; when associated with D-23; D-29 and D-33. Preferentially interacts with RAD51; when associated with D-23; D-29 and D-33.
Mutagenesis	23 – 23	S -> D. No effect on DNA synthesis following DNA damage; when associated with D-29. No effect on cell-cycle progression, nor DNA synthesis in undamaged cells; when associated with D-8; D-29 and D-33. Impaired DNA double strand breaks repair; when associated with D-8; D-29 and D-33. Extended DNA damage-induced G2-M checkpoint; when associated with D-8; D-29 and D-33. Preferentially interacts with RAD51; when associated with D-8; D-29 and D-33.
Mutagenesis	29 – 29	S -> A. Reduces phosphorylation by CDK1.
Mutagenesis	29 – 29	S -> D. No effect on DNA synthesis following DNA damage; when associated with D-23. No effect on cell-cycle progression, nor DNA synthesis in undamaged cells; when associated with D-8; D-23 and D-33. Impaired DNA double strand breaks repair; when associated with D-8; D-23 and D-33. Extended DNA damage-induced G2-M checkpoint; when associated with D-8; D-23 and D-33. Preferentially interacts with RAD51; when associated with D-8; D-23 and D-33.
Mutagenesis	33 – 33	S -> D. Lower homologous recombination efficiency following DNA double strand break. Impaired DNA synthesis following DNA damage; when associated with D-8. No effect on cell-cycle progression, nor DNA synthesis in undamaged cells; when associated with D-8; D-23 and D-29. Impaired DNA double strand breaks repair; when associated with D-8; D-23 and D-29. Extended DNA damage-induced G2-M checkpoint; when associated with D-8; D-23 and D-29. Preferentially interacts with RAD51; when associated with D-8; D-23 and D-29.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-14; ARG-15 AND SER-203;

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.