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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6V0I7: Variant p.Glu2375Lys

Protocadherin Fat 4
Gene: FAT4
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Variant information Variant position: help 2375 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glutamate (E) to Lysine (K) at position 2375 (E2375K, p.Glu2375Lys). 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: help Change from medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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
Variant description: help In VMLDS2 and HKLLS2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2375 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 4981 The length of the canonical sequence.
Location on the sequence: help DDVNDNVPTFASKAYFTTIP E DAPTGTDVLLVNASDADASK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DDVNDNVPTFASKAYFTTIPEDAPTGTDVLLVNASDADASK

Mouse                         DDINDNVPTFANNMYLTSIAEDARTGTDVLLVNASDADAAA

Caenorhabditis elegans        -----------------------------------------
Sequence annotation in neighborhood: help 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 39 – 4981 Protocadherin Fat 4
Topological domain 39 – 4504 Extracellular
Domain 2365 – 2466 Cadherin 23
Glycosylation 2387 – 2387 N-linked (GlcNAc...) asparagine



Literature citations
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;
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.