UniProtKB/Swiss-Prot P57081: Variant p.Asp164Ala

tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4
Gene: WDR4
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Variant information Variant position:

164 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 Aspartate (D) to Alanine (A) at position 164 (D164A, p.Asp164Ala). 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 (D) to small size and hydrophobic (A) 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 GAMOS6; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1555976610 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HLSMLLDVAVSPDDRFILTA D RDEKIRVSWAAAPHSIESFC 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                         HLSMLLDVAVSPDDRFILTADRDEKIRVSWAAAPHSIESFC

Mouse                         HLSMLLDVAVSPDDQFVLTADRDEKIRVSWAAAPHSIESFC

Bovine                        HLSMLLDVAVSPDDRFVLTADRDEKIRVSWAAAPHSIESFC

Xenopus laevis                HLSMLLDVTVSLDGKHIITCDRDEKIRVSCWGAPHVIMSFC

Xenopus tropicalis            HLSMLLDVAVSPDGNHIITCDRDEKIRVSRWDSPHVIMSFC

Zebrafish                     HLSMLLDVALSPDDKYIITADRDEKIRVSFRRSPYNIQAFC

Caenorhabditis elegans        AISMILDVAFSPDGKRLLMADRDEKVRALRYPATSVIDSFF

Slime mold                    HYSSIVDIKFSPCFNYLLSADRDEKIRVSHYPNCFDIESFC

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	2 – 412	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4
Repeat	137 – 174	WD 4
Mutagenesis	147 – 147	M -> A. Reduced formation of N(7)-methylguanine in tRNAs.
Mutagenesis	165 – 165	R -> A. Abolished formation of N(7)-methylguanine in tRNAs.
Mutagenesis	166 – 166	D -> A. Abolished formation of N(7)-methylguanine in tRNAs.
Mutagenesis	167 – 167	E -> A. Abolished formation of N(7)-methylguanine in tRNAs.
Mutagenesis	170 – 170	R -> A. Reduced formation of N(7)-methylguanine in tRNAs.
Beta strand	159 – 164

Literature citations
Speech and language delay in a patient with WDR4 mutations.
Chen X.; Gao Y.; Yang L.; Wu B.; Dong X.; Liu B.; Lu Y.; Zhou W.; Wang H.;
Eur. J. Med. Genet. 61:468-472(2018)
Cited for: VARIANT GAMOS6 ALA-164;

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.