Variant position: 12 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 MTEYKLVVVGA GGVGKSALTIQLIQNHFVDEY
Mouse MTEYKLVVVGA GGVGKSALTIQLIQNHFVDEY
Rat MTEYKLVVVGA GGVGKSALTIQLIQNHFVDEY
Chicken MTEYKLVVVGA GGVGKSALTIQLIQNHFVDEY
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
1 – 1 Removed; alternate
2 – 186 GTPase HRas, N-terminally processed
1 – 1 N-acetylmethionine; in GTPase HRas; alternate
2 – 2 N-acetylthreonine; in GTPase HRas, N-terminally processed
17 – 17 S -> N. Dominant negative. Prevents PLCE1 EGF-induced recruitment to plasma membrane. No effect on subcellular location of isoform 2.
26 – 26 N -> G. Loss of interaction with PLCE1; when associated with V-12.
29 – 29 V -> A. No effect on interaction with PLCE1; when associated with V-12.
32 – 32 Y -> F. Loss of interaction and recruitment to plasma membrane of PLCE1; when associated with V-12.
12 – 15
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
Aoki Y.; Niihori T.; Kawame H.; Kurosawa K.; Ohashi H.; Tanaka Y.; Filocamo M.; Kato K.; Suzuki Y.; Kure S.; Matsubara Y.;
Nat. Genet. 37:1038-1040(2005)
Cited for: VARIANTS CSTLO ALA-12; SER-12; VAL-12 AND ASP-13;
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
Gripp K.W.; Lin A.E.; Stabley D.L.; Nicholson L.; Scott C.I. Jr.; Doyle D.; Aoki Y.; Matsubara Y.; Zackai E.H.; Lapunzina P.; Gonzalez-Meneses A.; Holbrook J.; Agresta C.A.; Gonzalez I.L.; Sol-Church K.;
Am. J. Med. Genet. A 140:1-7(2006)
Cited for: VARIANTS CSTLO ALA-12; SER-12 AND CYS-13;
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;
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.