Variant position: 702 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1333 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 IQPVQLRVLNVCRHWVEHHF YDFERDAYLLQRMEEFIGTVR
Mouse IQPVQLRVLNVCRHWVEHHF YDFERDADLLQRMEEFIGTVR
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.
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M.; Pennacchio L.A.; Zhao C.; Yadav K.K.; Fodale V.; Sarkozy A.; Pandit B.; Oishi K.; Martinelli S.; Schackwitz W.; Ustaszewska A.; Martin J.; Bristow J.; Carta C.; Lepri F.; Neri C.; Vasta I.; Gibson K.; Curry C.J.; Lopez Siguero J.P.; Digilio M.C.; Zampino G.; Dallapiccola B.; Bar-Sagi D.; Gelb B.D.;
Nat. Genet. 39:75-79(2007)
Cited for: VARIANTS NS4 LYS-108; ARG-269; ARG-432; LYS-433; TYR-441; ARG-548; PRO-550; GLY-552; LYS-552; SER-552; HIS-702; LEU-729; PHE-733 AND LYS-846; VARIANTS LEU-655; ARG-977 AND ARG-1320; CHARACTERIZATION OF VARIANTS NS4 GLY-552 AND LEU-729;
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
Longoni M.; Moncini S.; Cisternino M.; Morella I.M.; Ferraiuolo S.; Russo S.; Mannarino S.; Brazzelli V.; Coi P.; Zippel R.; Venturin M.; Riva P.;
Am. J. Med. Genet. A 152:2176-2184(2010)
Cited for: VARIANTS NS4 THR-269; ARG-477 AND HIS-702; VARIANT GLN-497; CHARACTERIZATION OF VARIANT GLN-497;
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