Variant position: 117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 189 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 REQIKRVKDSDDVPMVLVGN KCDLAARTVESRQAQDLARSY
Mouse REQIKRVKDSDDVPMVLVGN KCDLAARTVESRQAQDLARSY
Rat REQIKRVKDSDDVPMVLVGN KCDLAARTVESRQAQDLARSY
Chicken REQIKRVKDSDDVPMVLVGN KCDLPARTVETRQAQDLARSY
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
1 – 186 GTPase HRas
2 – 186 GTPase HRas, N-terminally processed
116 – 119 GTP
118 – 118 S-nitrosocysteine
118 – 118 C -> S. Abolishes S-nitrosylation. No stimulation of guanine nucleotide exchange.
119 – 119 D -> N. Loss of GTP-binding activity.
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
Kerr B.; Delrue M.-A.; Sigaudy S.; Perveen R.; Marche M.; Burgelin I.; Stef M.; Tang B.; Eden O.B.; O'Sullivan J.; De Sandre-Giovannoli A.; Reardon W.; Brewer C.; Bennett C.; Quarell O.; M'Cann E.; Donnai D.; Stewart F.; Hennekam R.; Cave H.; Verloes A.; Philip N.; Lacombe D.; Levy N.; Arveiler B.; Black G.;
J. Med. Genet. 43:401-405(2006)
Cited for: VARIANTS CSTLO SER-12; CYS-12; GLU-12; ALA-12 AND ARG-117;
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