Variant position: 170 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:
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 DVAVSPDDRFILTADRDEKI RVSWAAAPHSIESFCLGHTEF
Mouse DVAVSPDDQFVLTADRDEKI RVSWAAAPHSIESFCLGHTEF
Bovine DVAVSPDDRFVLTADRDEKI RVSWAAAPHSIESFCLGHTEF
Xenopus laevis DVTVSLDGKHIITCDRDEKI RVSCWGAPHVIMSFCLGHTEF
Xenopus tropicalis DVAVSPDGNHIITCDRDEKI RVSRWDSPHVIMSFCLGHTEF
Zebrafish DVALSPDDKYIITADRDEKI RVSFRRSPYNIQAFCLGHTEF
Caenorhabditis elegans DVAFSPDGKRLLMADRDEKV RALRYPATSVIDSFFLGHTEY
Slime mold DIKFSPCFNYLLSADRDEKI RVSHYPNCFDIESFCLGHTKY
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
2 – 412 tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4
137 – 174 WD 4
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
Trimouille A.; Lasseaux E.; Barat P.; Deiller C.; Drunat S.; Rooryck C.; Arveiler B.; Lacombe D.;
Clin. Genet. 93:374-377(2018)
Cited for: VARIANT GAMOS6 GLN-170;
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