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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N157: Variant p.Val443Asp

Jouberin
Gene: AHI1
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Variant information Variant position: help 443 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 Valine (V) to Aspartate (D) at position 443 (V443D, p.Val443Asp). 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 hydrophobic (V) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 JBTS3; alters interaction with HAP1 and NPHP1; loss of NPHP1AHI1(2):NPHP1(2) tetramers; loss of localization at cilium basal body and cell-cell junctions; loss of positive modulation of classical Wnt signaling; decreased interaction with CTNNB1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 443 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1196 The length of the canonical sequence.
Location on the sequence: help QIVFNENFPYLLRGSDESPK V ILFFEILDFLSVDEIKNNSE 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                         QIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSE

Mouse                         QVIFNENFPYLLREFEECPKVILFFEILDFLSMDEIKNNSE

Rat                           QVIFNENFPYLLREFDECPKVILFFEILDFLSMDEIKNNSE
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 – 1196 Jouberin



Literature citations
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Ferland R.J.; Eyaid W.; Collura R.V.; Tully L.D.; Hill R.S.; Al-Nouri D.; Al-Rumayyan A.; Topcu M.; Gascon G.; Bodell A.; Shugart Y.Y.; Ruvolo M.; Walsh C.A.;
Nat. Genet. 36:1008-1013(2004)
Cited for: TISSUE SPECIFICITY; VARIANT JBTS3 ASP-443; Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
Lancaster M.A.; Gopal D.J.; Kim J.; Saleem S.N.; Silhavy J.L.; Louie C.M.; Thacker B.E.; Williams Y.; Zaki M.S.; Gleeson J.G.;
Nat. Med. 17:726-731(2011)
Cited for: FUNCTION; INTERACTION WITH CTNNB1; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS JBTS3 ASP-443; GLN-723 AND ARG-896; The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
Tuz K.; Hsiao Y.C.; Juarez O.; Shi B.; Harmon E.Y.; Phelps I.G.; Lennartz M.R.; Glass I.A.; Doherty D.; Ferland R.J.;
J. Biol. Chem. 288:13676-13694(2013)
Cited for: SELF-ASSOCIATION; INTERACTION WITH NPHP1 AND HAP1; SUBCELLULAR LOCATION; VARIANT JBTS3 LEU-351; CHARACTERIZATION OF VARIANTS JBTS3 LEU-351 AND ASP-443; Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
Dixon-Salazar T.; Silhavy J.L.; Marsh S.E.; Louie C.M.; Scott L.C.; Gururaj A.; Al-Gazali L.; Al-Tawari A.A.; Kayserili H.; Sztriha L.; Gleeson J.G.;
Am. J. Hum. Genet. 75:979-987(2004)
Cited for: VARIANT JBTS3 ASP-443;
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.