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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P27694: Variant p.Thr270Ala

Replication protein A 70 kDa DNA-binding subunit
Gene: RPA1
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Variant information Variant position: help 270 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Threonine (T) to Alanine (A) at position 270 (T270A, p.Thr270Ala). 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: help Change from medium size and polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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

Variant description: help In PFBMFT6; uncertain significance; has DNA-binding properties similar to the wild-type; has no effect on the formation of canonical replication protein A complex. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 270 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 616 The length of the canonical sequence.
Location on the sequence: help EVNKVYYFSKGTLKIANKQF T AVKNDYEMTFNNETSVMPCE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         EVNKVYYFSKGTLKIANKQFTAVKNDYEMTFNNETSVMPCE

Mouse                         EVNKVYYFSKGALKIANKQFSAVKNDYEMTFNNETSVLPCE

Chicken                       ELNKVYYFTKGNLKTANKQYTAVKNDYEITFNNETSVVPCD

Xenopus laevis                EVNKVYYFSKGTLKIANKQYTSVKNDYEMTFNSETSVIPCD

Xenopus tropicalis            EVNKVYYFSKGTLKIANKQYTSVKNDYEMTFNSETSVIPCD

Zebrafish                     EQGKVFYISKGTLKIANKQFSSLKNDYEMTLNGETSIIPCE

Caenorhabditis elegans        TENLSYYLSGGSVKQANKKFNNTGHDYEITLRSDSIIEAGG

Drosophila                    QVDSVYYISKCQLKPANKQYSSLNNAYEMTFSGETVVQLCE

Baker's yeast                 QEGKVYYVSKAKLQPAKPQFTNLTHPYELNLDRDTVIEECF

Fission yeast                 QEGSVYYISRCRVNIAKKQYTNVQNEYELMFERDTEIRKAE

Sequence annotation in neighborhood: help 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 1 – 616 Replication protein A 70 kDa DNA-binding subunit
Chain 2 – 616 Replication protein A 70 kDa DNA-binding subunit, N-terminally processed
DNA binding 197 – 281 OB
Modified residue 259 – 259 N6-acetyllysine; alternate
Cross 259 – 259 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Cross 267 – 267 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)



Literature citations
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Sharma R.; Sahoo S.S.; Honda M.; Granger S.L.; Goodings C.; Sanchez L.; Kuenstner A.; Busch H.; Beier F.; Pruett-Miller S.M.; Valentine M.B.; Fernandez A.G.; Chang T.C.; Geli V.; Churikov D.; Hirschi S.; Pastor V.B.; Boerries M.; Lauten M.; Kelaidi C.; Cooper M.A.; Nicholas S.; Rosenfeld J.A.; Polychronopoulou S.; Kannengiesser C.; Saintome C.; Niemeyer C.M.; Revy P.; Wold M.S.; Spies M.; Erlacher M.; Coulon S.; Wlodarski M.W.;
Blood 139:1039-1051(2022)
Cited for: VARIANTS PFBMFT6 ALA-227; LYS-240 AND ALA-270; CHARACTERIZATION OF VARIANTS PFBMFT6 ALA-227; LYS-240 AND ALA-270; INVOLVEMENT IN PFBMFT6; FUNCTION; SUBUNIT;
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.