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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12004: Variant p.Ser228Ile

Proliferating cell nuclear antigen
Gene: PCNA
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Variant information Variant position: help 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Serine (S) to Isoleucine (I) at position 228 (S228I, p.Ser228Ile). 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 small size and polar (S) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In ATLD2; a hypomorphic mutation affecting DNA repair in response to UV; results in significantly decreased interaction with FEN1, LIG1 and ERCC5. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 261 The length of the canonical sequence.
Location on the sequence: help ALRYLNFFTKATPLSSTVTL S MSADVPLVVEYKIADMGHLK 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                         ALRYLNFFTKATPLSSTVTLSMSADVPLVVEYKIADMGHLK

Mouse                         ALRYLNFFTKATPLSPTVTLSMSADVPLVVEYKIADMGHLK

Rat                           ALRYLNFFTKATPLSPTVTLSMSADVPLVVEYKIADMGHLK

Bovine                        ALRYLNFFTKATPLSPTVTLSMSADVPLVVEYKIADMGHLK

Chicken                       ALRYLNFFTKATPLSPTVTLSMSADVPLVVEYKIADMGHLK

Xenopus laevis                ALRYLNFFTKATPLSPTVILSMSADIPLVVEYKIADMEHVK

Zebrafish                     ALNYLNFFTKATPLSKTVTLSMSADIPLVVEYKIADMGHVK

Caenorhabditis elegans        SIKYMNQFTKATALSDRVRLSLCNDVPVVVEYPIEENGYLR

Drosophila                    ACRYLNAFTKATPLSTQVQLSMCADVPLVVEYAIKDLGHIR

Slime mold                    ALKFLSNFTKATPLSPMVTLSMSEGIPVVVEYKIDDLGFLG

Baker's yeast                 GAKYLLDIIKGSSLSDRVGIRLSSEAPALFQFDLKS-GFLQ

Fission yeast                 SLKYLAQFTKATPLATRVTLSMSNDVPLLVEYKMES-GFLR
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 – 261 Proliferating cell nuclear antigen
Modified residue 211 – 211 Phosphotyrosine; by EGFR
Modified residue 248 – 248 N6-acetyllysine
Mutagenesis 211 – 211 Y -> F. Alters chromatin-associated PCNA stability and its function in DNA replication and repair.
Beta strand 223 – 229



Literature citations
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
Baple E.L.; Chambers H.; Cross H.E.; Fawcett H.; Nakazawa Y.; Chioza B.A.; Harlalka G.V.; Mansour S.; Sreekantan-Nair A.; Patton M.A.; Muggenthaler M.; Rich P.; Wagner K.; Coblentz R.; Stein C.K.; Last J.I.; Taylor A.M.; Jackson A.P.; Ogi T.; Lehmann A.R.; Green C.M.; Crosby A.H.;
J. Clin. Invest. 124:3137-3146(2014)
Cited for: INVOLVEMENT IN ATLD2; INTERACTION WITH FEN1; LIG1 AND ERCC5; VARIANT ATLD2 ILE-228; CHARACTERIZATION OF VARIANT ATDL2 ILE-228;
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.