Home  |  Contact

UniProtKB/Swiss-Prot Q9UQ13: Variant p.Ser2Gly

Leucine-rich repeat protein SHOC-2
Gene: SHOC2
Variant information

Variant position:  2
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Glycine (G) at position 2 (S2G, p.Ser2Gly).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and polar (S) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) [MIM:607721]: A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. {ECO:0000269|PubMed:19684605, ECO:0000269|PubMed:23918763, ECO:0000269|PubMed:25137548}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In NSLH1; creates a N-myristoylation site, resulting in myristoylation of the protein and aberrant targeting to the plasma membrane.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



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                         MSSSLGKEKDSKEKDPKVPS-AK

Mouse                         MSSSLGKEKDSKEKDPKVPS-A

Rat                           MSSSLGKEKDSKEKDPKVPS-A

Bovine                        MSSSLGKEKDSKEKDPKAPS-A

Chicken                       MSSNLGKEKDCKEKDPKVPS-S

Xenopus laevis                -----MSSSAGKDKEPKVSSGT

Zebrafish                     MSSTLGKDKDSKEREPKA----

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.

TypePositionsDescription
Chain 1 – 582 Leucine-rich repeat protein SHOC-2


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.