UniProtKB/SwissProt variant VAR

Jouberin
Gene: AHI1
Feedback?

Variant information Variant position:

443
Type of variant:

LP/P [Disclaimer]
Residue change:

From Valine (V) to Aspartate (D) at position 443 (V443D, p.Val443Asp).
Physico-chemical properties:

Change from medium size and hydrophobic (V) to medium size and acidic (D)
BLOSUM score:

-3
Variant description:

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.
Other resources:

Variant rs121434350 [ dbSNP | Ensembl ]

Sequence information Variant position:

443
Protein sequence length:

1196
Location on the sequence:

QIVFNENFPYLLRGSDESPK V ILFFEILDFLSVDEIKNNSE
Residue conservation:

Human                         QIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSE

Mouse                         QVIFNENFPYLLREFEECPKVILFFEILDFLSMDEIKNNSE

Rat                           QVIFNENFPYLLREFDECPKVILFFEILDFLSMDEIKNNSE

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N157: Variant p.Val443Asp