Variant position: 723 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 AKFHPAVRELVVTGCYDSMI RIWKVEMREDSAILVRQFDVH
Mouse AKFHPATRELVVTGCYDSMI RIWKIDAREDAAILVRQLDVH
Rat ARFHPATRELVVTGCYDSMI RIWKVDAREDAAILVRQLDVH
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.
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;
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente E.M.; Brancati F.; Silhavy J.L.; Castori M.; Marsh S.E.; Barrano G.; Bertini E.; Boltshauser E.; Zaki M.S.; Abdel-Aleem A.; Abdel-Salam G.M.H.; Bellacchio E.; Battini R.; Cruse R.P.; Dobyns W.B.; Krishnamoorthy K.S.; Lagier-Tourenne C.; Magee A.; Pascual-Castroviejo I.; Salpietro C.D.; Sarco D.; Dallapiccola B.; Gleeson J.G.;
Ann. Neurol. 59:527-534(2006)
Cited for: VARIANTS JBTS3 589-ARG--GLU-1196 DEL AND GLN-723; VARIANTS ASN-49; HIS-548; LEU-761; TRP-830; SER-856; CYS-933; PHE-1123 AND SER-1140;
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.