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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75398: Variant p.Arg530Leu

Deformed epidermal autoregulatory factor 1 homolog
Gene: DEAF1
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Variant information Variant position: help 530 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 Arginine (R) to Leucine (L) at position 530 (R530L, p.Arg530Leu). 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 large size and basic (R) to medium size and hydrophobic (L) 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 a primary colorectal cancer. Any additional useful information about the variant.


Sequence information Variant position: help 530 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 565 The length of the canonical sequence.
Location on the sequence: help EAMSECTGCHKVNYCSTFCQ R KDWKDHQHICGQSAAVTVQA 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                         EAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQA

Chimpanzee                    EAMNECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQA

Mouse                         EAMSECTGCHKVNYCSTFCQRKDWKDHQHVCGQSASVTVQA

Rat                           EAMSECTGCHKVNYCSTFCQRKDWKDHQHVCGQSASVTVQA

Drosophila                    EALAECSLCRKTPYCSEFCQRKDWNAHQVECTRNPQTTTQQ

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 – 565 Deformed epidermal autoregulatory factor 1 homolog
Zinc finger 504 – 540 MYND-type
Binding site 515 – 515
Binding site 518 – 518
Binding site 524 – 524
Binding site 528 – 528
Binding site 536 – 536
Binding site 540 – 540
Mutagenesis 538 – 538 H -> S. No effect on folding of MYND-type zinc finger.
Helix 526 – 532



Literature citations
Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas.
Manne U.; Gary B.D.; Oelschlager D.K.; Weiss H.L.; Frost A.R.; Grizzle W.E.;
Clin. Cancer Res. 7:3495-3503(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANTS VAL-186; ASN-191; ILE-191; 199-TYR--GLU-202 DELINS CYS-ASP-ASN-ASP; ASP-202; LYS-218; 350-ASP--ALA-352 DELINS GLY-GLN-THR; HIS-356; ASN-364; HIS-367; LEU-370; PHE-397; ALA-442; LYS-449; 451-ARG-SER-452 DELINS GLY-ILE; HIS-468; LEU-479; LYS-498; ASN-526; LEU-530; 537-GLN-HIS-538 DELINS HIS-LEU; HIS-542; GLY-545 AND VAL-545; ROLE IN NEOPLASIA;
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.