Variant position: 2375 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4981 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 DDVNDNVPTFASKAYFTTIP EDAPTGTDVLLVNASDADASK
Mouse DDINDNVPTFANNMYLTSIA EDARTGTDVLLVNASDADAAA
Caenorhabditis elegans -------------------- ---------------------
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.
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Cappello S.; Gray M.J.; Badouel C.; Lange S.; Einsiedler M.; Srour M.; Chitayat D.; Hamdan F.F.; Jenkins Z.A.; Morgan T.; Preitner N.; Uster T.; Thomas J.; Shannon P.; Morrison V.; Di Donato N.; Van Maldergem L.; Neuhann T.; Newbury-Ecob R.; Swinkells M.; Terhal P.; Wilson L.C.; Zwijnenburg P.J.; Sutherland-Smith A.J.; Black M.A.; Markie D.; Michaud J.L.; Simpson M.A.; Mansour S.; McNeill H.; Goetz M.; Robertson S.P.;
Nat. Genet. 45:1300-1308(2013)
Cited for: DEVELOPMENTAL STAGE; VARIANTS VMLDS2 LYS-2375; PHE-4159 AND TYR-4398;
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Alders M.; Al-Gazali L.; Cordeiro I.; Dallapiccola B.; Garavelli L.; Tuysuz B.; Salehi F.; Haagmans M.A.; Mook O.R.; Majoie C.B.; Mannens M.M.; Hennekam R.C.;
Hum. Genet. 133:1161-1167(2014)
Cited for: INVOLVEMENT IN HKLLS2; VARIANTS HKLLS2 LEU-475; GLN-486; LYS-2375 AND PHE-4282;
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.