Variant position: 519 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1127 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 AKAPLHLHENPDLAKVMNLI VFHSRMLDSVEKLLVETSDLS
Mouse SKAPLHLHENPDLAKVMNLI IFHSQMLDSVEKMLVETSDLS
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 – 1127 Nck-associated protein 1-like
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Cook S.A.; Comrie W.A.; Poli M.C.; Similuk M.; Oler A.J.; Faruqi A.J.; Kuhns D.B.; Yang S.; Vargas-Hernandez A.; Carisey A.F.; Fournier B.; Anderson D.E.; Price S.; Smelkinson M.; Abou Chahla W.; Forbes L.R.; Mace E.M.; Cao T.N.; Coban-Akdemir Z.H.; Jhangiani S.N.; Muzny D.M.; Gibbs R.A.; Lupski J.R.; Orange J.S.; Cuvelier G.D.E.; Al Hassani M.; Al Kaabi N.; Al Yafei Z.; Jyonouchi S.; Raje N.; Caldwell J.W.; Huang Y.; Burkhardt J.K.; Latour S.; Chen B.; ElGhazali G.; Rao V.K.; Chinn I.K.; Lenardo M.J.;
Cited for: INVOLVEMENT IN IMD72; VARIANTS IMD72 LEU-258; LEU-359; VAL-371 AND LEU-519; CHARACTERIZATION OF VARIANTS IMD72 LEU-258; LEU-359; VAL-371 AND LEU-519; FUNCTION; INTERACTION WITH MTOR; RICTOR AND WASF2; TISSUE SPECIFICITY;
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.