Variant position: 977 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 NFSKRRKVAEITGEIQQYQN QPYCLRVESDIKRFFENLNPM
Mouse NFSKRRRVAEITGEIQQYQN QPYCLRVEPDIKRFFENLNPM
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 – 1333 Son of sevenless homolog 1
780 – 1019 Ras-GEF
372 – 1333 Missing. In isoform 2.
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;
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.