Variant position: 146 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 ESRQAQDLARSYGIPYIETS AKTRQGVEDAFYTLVREIRQH
Mouse ESRQAQDLARSYGIPYIETS AKTRQGVEDAFYTLVREIRQH
Rat ESRQAQDLARSYGIPYIETS AKTRQGVEDAFYTLVREIRQH
Chicken ETRQAQDLARSYGIPYIETS AKTRQGVEDAFYTLVREIRQH
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
145 – 147 GTP
144 – 144 T -> I. GTP-binding activity reduced by factor of 25.
146 – 148
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;
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.