Variant position: 58 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 DSYRKQVVIDGETCLLDILD TAGQEEYSAMRDQYMRTGEGF
Mouse DSYRKQVVIDGETCLLDILD TAGQEEYSAMRDQYMRTGEGF
Rat DSYRKQVVIDGETCLLDILD TAGQEEYSAMRDQYMRTGEGF
Chicken DSYRKQVVIDGETCLLDILD TAGQEEYSAMRDQYMRTGEGF
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
57 – 61 GTP
38 – 38 D -> N. No effect on interaction with PLCE1; when associated with V-12.
39 – 39 S -> C. No effect on interaction with PLCE1; when associated with V-12.
59 – 59 A -> T. Loss of GTPase activity and creation of an autophosphorylation site.
61 – 61 Q -> I. Moderately increased transformation of cultured cell lines.
61 – 61 Q -> V. Strongly increased transformation of cultured cell lines.
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
Gripp K.W.; Innes A.M.; Axelrad M.E.; Gillan T.L.; Parboosingh J.S.; Davies C.; Leonard N.J.; Lapointe M.; Doyle D.; Catalano S.; Nicholson L.; Stabley D.L.; Sol-Church K.;
Am. J. Med. Genet. A 146:683-690(2008)
Cited for: VARIANTS CSTLO ILE-58 AND VAL-146;
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