Variant position: 454 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1194 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 GHV-------------GLCDAMKPIDGSKLL-DF LIKSSFIG----------------VSGEEVWFDEKGD
Mouse GYV-------------GLCDAMKPIDGRKLL-DF LIKSSFV
Rat GHV-------------GLCDAMKPIDGRKLL-DF LIKSSFV
Caenorhabditis elegans DDAIENHWISRYSKQPEICHAMQNIDGSDFYQNY LLKVNFT
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
19 – 1194 Metabotropic glutamate receptor 1
19 – 592 Extracellular
447 – 455
The role of a novel TRMT1 gene mutation and rare grm1 gene defect in intellectual disability in two azeri families.
Davarniya B.; Hu H.; Kahrizi K.; Musante L.; Fattahi Z.; Hosseini M.; Maqsoud F.; Farajollahi R.; Wienker T.F.; Ropers H.H.; Najmabadi H.;
PLoS ONE 10:E0129631-E0129631(2015)
Cited for: VARIANT SCAR13 PHE-454;
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