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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86XL3: Variant p.Ala109Pro

Ankyrin repeat and LEM domain-containing protein 2
Gene: ANKLE2
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Variant information Variant position: help 109 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 Alanine (A) to Proline (P) at position 109 (A109P, p.Ala109Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) 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 MCPH16. Any additional useful information about the variant.


Sequence information Variant position: help 109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 938 The length of the canonical sequence.
Location on the sequence: help LKCGPITSTTRFIFEKKLAQ A LLEQGGRLSSFYHHEAGVTA 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                         LKCGPITSTTRFIFEKK-LAQALLEQGGRLSSFYHHEAGVTA

Mouse                         LKCGPITSTTRFIFEKK-LAQALLEQGGLLTSSLPKPSAVT

Rat                           LKCGPITSTTRFIFEKK-LAQALLEQGGLLTSSLPKHSEVT

Caenorhabditis elegans        ----ETEGPVYVAYSME----DMLKS--------PRDL---

Drosophila                    ----PPDSPLWLIFTEKSKALDILRH--------YKEARLR
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 1 – 938 Ankyrin repeat and LEM domain-containing protein 2
Topological domain 33 – 938 Cytoplasmic
Domain 69 – 113 LEM
Alternative sequence 1 – 645 Missing. In isoform 3.



Literature citations
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Link N.; Chung H.; Jolly A.; Withers M.; Tepe B.; Arenkiel B.R.; Shah P.S.; Krogan N.J.; Aydin H.; Geckinli B.B.; Tos T.; Isikay S.; Tuysuz B.; Mochida G.H.; Thomas A.X.; Clark R.D.; Mirzaa G.M.; Lupski J.R.; Bellen H.J.;
Dev. Cell 51:713-729.e6(2019)
Cited for: FUNCTION; VARIANTS MCPH16 VAL-8; GLY-27; PRO-109; TRP-201; GLY-229; 236-ARG--LEU-938 DEL; CYS-536; VAL-573 AND 782-GLN--LEU-938 DEL; CHARACTERIZATION OF VARIANT MCPH16 GLY-229; Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R.; Maddirevula S.; Ewida N.; Alsahli S.; Abdel-Salam G.M.H.; Zaki M.S.; Tala S.A.; Alhashem A.; Softah A.; Al-Owain M.; Alazami A.M.; Abadel B.; Patel N.; Al-Sheddi T.; Alomar R.; Alobeid E.; Ibrahim N.; Hashem M.; Abdulwahab F.; Hamad M.; Tabarki B.; Alwadei A.H.; Alhazzani F.; Bashiri F.A.; Kentab A.; Sahintuerk S.; Sherr E.; Fregeau B.; Sogati S.; Alshahwan S.A.M.; Alkhalifi S.; Alhumaidi Z.; Temtamy S.; Aglan M.; Otaify G.; Girisha K.M.; Tulbah M.; Seidahmed M.Z.; Salih M.A.; Abouelhoda M.; Momin A.A.; Saffar M.A.; Partlow J.N.; Arold S.T.; Faqeih E.; Walsh C.; Alkuraya F.S.;
Genet. Med. 21:545-552(2019)
Cited for: VARIANTS MCPH16 PRO-109 AND VAL-585;
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.