UniProtKB/Swiss-Prot O75626: Variant p.Pro84Arg

PR domain zinc finger protein 1
Gene: PRDM1
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Variant information Variant position:

84 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 Proline (P) to Arginine (R) at position 84 (P84R, p.Pro84Arg). 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 medium size and hydrophobic (P) to large size and basic (R) 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:

Found in an activated B cell-like diffuse large B-cell lymphoma (ABC-DLBCL) cell line; protein instability caused by increased susceptibility to proteasomal degradation. Any additional useful information about the variant.

Sequence information Variant position:

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

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

DHPWDSGADGGTSVQAEASL P RNLLFKYATNSEEVIGVMSK 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                         DHPWDSGADGGTSVQAEASLPRNLLFKYAT-NSEEVIGVMSK

Mouse                         DHPWDSGADGGTSVQAEASLPRNLLFKYAANNSKEVIGVVS

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 – 825	PR domain zinc finger protein 1
Domain	84 – 201	SET
Alternative sequence	4 – 137	Missing. In isoform 3.
Mutagenesis	84 – 84	P -> GK. Protein instability caused by increased susceptibility to proteasomal degradation.

Literature citations
HSP70-Hrd1 axis precludes the oncorepressor potential of N-terminal misfolded Blimp-1s in lymphoma cells.
Wang W.F.; Yan L.; Liu Z.; Liu L.X.; Lin J.; Liu Z.Y.; Chen X.P.; Zhang W.; Xu Z.Z.; Shi T.; Li J.M.; Zhao Y.L.; Meng G.; Xia Y.; Li J.Y.; Zhu J.;
Nat. Commun. 8:363-363(2017)
Cited for: VARIANTS ARG-84 AND ARG-107; CHARACTERIZATION OF VARIANTS ARG-84 AND ARG-107; INVOLVEMENT IN ABC-DLBCL; MUTAGENESIS OF PRO-84 AND ILE-107; UBIQUITINATION; SUMOYLATION; SUBCELLULAR LOCATION; INTERACTION WITH CBX4; PIAS1; PIAS2; PIAS3; PIAS4; PML AND RNF4;

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.