Variant position: 830 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 PNGKRLLIHTKDSTLRIMDL RILVARKFVGAANYREKIHST
Mouse PNGKRLLIHTKDSTLRIMDL RILAARKFVGAANYREKIHST
Rat PNGKRLLIHTKDSTLRIMDL RILAARKFVGAANYREKIHST
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.
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;
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi M.A.; Doherty D.; Eckert M.L.; Shaw D.W.; Ozyurek H.; Aysun S.; Giray O.; Al Swaid A.; Al Shahwan S.; Dohayan N.; Bakhsh E.; Indridason O.S.; Dobyns W.B.; Bennett C.L.; Chance P.F.; Glass I.A.;
J. Med. Genet. 43:334-339(2006)
Cited for: VARIANTS HIS-548 AND TRP-830; VARIANTS JBTS3 ILE-671; GLY-719 AND ARG-896;
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.