UniProtKB/Swiss-Prot Q15004: Variant p.Glu79Lys

PCNA-associated factor
Gene: PCLAF
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Variant information Variant position:

79 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 Glutamate (E) to Lysine (K) at position 79 (E79K, p.Glu79Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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
Other resources:

Links to websites of interest for the variant.

Variant rs11554313 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PKWQKGIGEFFRLSPKDSEK E NQIPEEAGSSGLGKAKRKAC 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                         PKWQKGIGEFF-RLSPKDSEKENQIP---EEAGSSGLGKAKRKAC

Mouse                         PKWQKGIGEFF-RLSPKESKKENQAP---EEAGTSGLGKAK

Rat                           PKWQKGIGEFF-RLSPKDSKKENQIP---EEAGSSGLGKAK

Bovine                        PKWQKGIGEFF-SLSPKDSEKENRIP---EEAGSSGLGKAK

Xenopus laevis                PTWQKGIGDFFGSPSTSQPEKENRIPSDDEEAGGSGAGKKP

Xenopus tropicalis            PTWQKGIGEFFGSPSTSQPEKENRIPSDDEEAGGSGAGKAP

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 – 111	PCNA-associated factor
Region	23 – 111	Disordered
Motif	78 – 80	KEN box
Modified residue	72 – 72	Phosphoserine
Alternative sequence	43 – 111	AENKYAGGNPVCVRPTPKWQKGIGEFFRLSPKDSEKENQIPEEAGSSGLGKAKRKACPLQPDHTNDEKE -> EHVLCNLITQMMKKNRTFSFIFE. In isoform 2.
Mutagenesis	65 – 65	I -> A. Loss of binding to PCNA.
Mutagenesis	68 – 68	F -> A. Loss of binding to PCNA.
Mutagenesis	78 – 78	K -> A. Stabilizes the protein in G1 by preventing association with the APC/C complex and degradation by the proteasome.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.