UniProtKB/Swiss-Prot Q9NQV7: Variant p.Lys788Glu

Histone-lysine N-methyltransferase PRDM9
Gene: PRDM9
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Variant information Variant position:

788 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 Lysine (K) to Glutamate (E) at position 788 (K788E, p.Lys788Glu). 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 (K) to medium size and acidic (E) 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
Polymorphism:

Several alleles exist depending on both the number of zinc finger C2H2 type domains and their identity (PubMed:26833727). Each allele binds to a specific hotspot set (PubMed:26833727). Variations in the zinc finger C2H2 type domains are associated with significant differences in affinity towards DNA-binding motif (PubMed:26833727). The sequence shown is that of allele B. Additional information on the polymorphism described.
Variant description:

In allele L9/24; significantly reduces affinity for the DNA-binding motif 5'-GCCTCCCTAGCCACG-3'. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs146505774 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RTHTGEKPYVCRECGRGFRD K SNLLSHQRTHTGEKPYVCRE 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                         RTHTGEKPYVCRECGRGFRDKSNLLSHQRTHTGEKPYVCRE

Mouse                         RTHTGEKPYVCRECGRGFTAKSVLIQHQRTHTGEKPYVCRE

Rat                           RTHTGEKPYICRECGRGFT----------------------

Zebrafish                     RIHTGEKPYTCSQCGKSFVHSGQLNVHLRTHTGEKPFLCSQ

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 – 894	Histone-lysine N-methyltransferase PRDM9
Zinc finger	776 – 798	C2H2-type 11
Region	730 – 820	DNA-binding
Binding site	770 – 770
Binding site	778 – 778
Binding site	781 – 781
Binding site	794 – 794
Binding site	798 – 798
Binding site	806 – 806
Helix	788 – 799

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.