UniProtKB/Swiss-Prot Q9Y4B6: Variant p.Leu378Phe

DDB1- and CUL4-associated factor 1
Gene: DCAF1
Feedback?

Variant information Variant position:

378 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Leucine (L) to Phenylalanine (F) at position 378 (L378F, p.Leu378Phe). 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 (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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:

Does not affect serine/threonine-protein kinase kinase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs17712228 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1507 The length of the canonical sequence.
Location on the sequence:

FYIDLKQTNDVLLTFEALKH L ASLLLHNKFATEFVAHGGVQ 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                         FYIDLKQTNDVLLTFEALKHLASLLLHNKFATEFVAHGGVQ

Mouse                         FYIDLKQTNDVLLTFEALKHLASLLLHNKFATEFVAHGGVQ

Caenorhabditis elegans        DYIDLEKSKDVRLTFDALKYLTSLLVHRKFALEFVNKGGIP

Drosophila                    GYLENLDRRDTCLAYEVLKYLASLLCHKKFALEFISHGGLE

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 – 1507	DDB1- and CUL4-associated factor 1
Region	141 – 500	Protein kinase-like
Alternative sequence	225 – 673	Missing. In isoform 3.
Mutagenesis	361 – 361	D -> A. Abolishes serine/threonine-protein kinase kinase activity.
Mutagenesis	363 – 363	K -> A. Abolishes serine/threonine-protein kinase kinase activity.

Literature citations
VprBP has intrinsic kinase activity targeting histone H2A and represses gene transcription.
Kim K.; Kim J.M.; Kim J.S.; Choi J.; Lee Y.S.; Neamati N.; Song J.S.; Heo K.; An W.;
Mol. Cell 52:459-467(2013)
Cited for: FUNCTION; CATALYTIC ACTIVITY; INDUCTION; MUTAGENESIS OF LYS-194; ASP-361 AND LYS-363; CHARACTERIZATION OF VARIANT PHE-378;

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.