Sequence information
Variant position: 2 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 582 The length of the canonical sequence.
Location on the sequence:
M
S SSLGKEKDSKEKDPKVPSAK
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 MS SSLGKEKDSKEKDPKVPS-AK
Mouse MS SSLGKEKDSKEKDPKVPS-A
Rat MS SSLGKEKDSKEKDPKVPS-A
Bovine MS SSLGKEKDSKEKDPKAPS-A
Chicken MS SNLGKEKDCKEKDPKVPS-S
Xenopus laevis -- ---MSSSAGKDKEPKVSSGT
Zebrafish MS STLGKDKDSKEREPKA----
Caenorhabditis elegans -- -----METSKEFEFRP---A
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
Chain
1 – 582
Leucine-rich repeat protein SHOC-2
Region
1 – 88
Disordered
Compositional bias
1 – 56
Basic and acidic residues
Literature citations
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Cordeddu V.; Di Schiavi E.; Pennacchio L.A.; Ma'ayan A.; Sarkozy A.; Fodale V.; Cecchetti S.; Cardinale A.; Martin J.; Schackwitz W.; Lipzen A.; Zampino G.; Mazzanti L.; Digilio M.C.; Martinelli S.; Flex E.; Lepri F.; Bartholdi D.; Kutsche K.; Ferrero G.B.; Anichini C.; Selicorni A.; Rossi C.; Tenconi R.; Zenker M.; Merlo D.; Dallapiccola B.; Iyengar R.; Bazzicalupo P.; Gelb B.D.; Tartaglia M.;
Nat. Genet. 41:1022-1026(2009)
Cited for: INVOLVEMENT IN NSLH1; VARIANT NSLH1 GLY-2; CHARACTERIZATION OF VARIANT NSLH1 GLY-2; SUBCELLULAR LOCATION;
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Gripp K.W.; Zand D.J.; Demmer L.; Anderson C.E.; Dobyns W.B.; Zackai E.H.; Denenberg E.; Jenny K.; Stabley D.L.; Sol-Church K.;
Am. J. Med. Genet. A 161A:2420-2430(2013)
Cited for: VARIANT NSLH1 GLY-2;
Disclaimer:
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.