Variant position: 351 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1196 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 SPVYPKCLLDDDLVLGVYIH RTDRLKSDFMISHPMVKIHVV
Mouse SPVHPKCLLDDDLVMGVYIH RTDRLKSDFMISHPMVKIHVV
Rat SPVHPKCLLDDDLVMGVYIH RTDRLKSDFMISHPMVKIHVV
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.
Type Positions Description
1 – 1196 Jouberin
141 – 434 Interaction with HAP1
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;
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.