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UniProtKB/Swiss-Prot O75398: Variant p.Arg530Leu

Deformed epidermal autoregulatory factor 1 homolog
Gene: DEAF1
Variant information

Variant position:  530
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  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:  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:  -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:  In a primary colorectal cancer.
Any additional useful information about the variant.



Sequence information

Variant position:  530
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  565
The length of the canonical sequence.

Location on the sequence:   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: 
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:  
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
Metal binding 515 – 515 Zinc 2
Metal binding 518 – 518 Zinc 2
Metal binding 524 – 524 Zinc 1
Metal binding 528 – 528 Zinc 1
Metal binding 536 – 536 Zinc 2
Metal binding 540 – 540 Zinc 2
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-CYS-ASP-ASN-ASP-202; ASP-202; LYS-218; 350-GLY-GLN-THR-352; HIS-356; ASN-364; HIS-367; LEU-370; PHE-397; ALA-442; LYS-449; 451-GLY-ILE-452; HIS-468; LEU-479; LYS-498; ASN-526; LEU-530; 537-HIS-LEU-538; 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.