Variant position: 32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 204 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 MVNGQVESAQFPEYDD---LYCK YCFVYGQDWAPTAGLEEGISQ
Mouse MITGQVESAQFPEYDD---LYCK YCFVYGQDWAPTAGLEEG
Rat MVNGQVESAQFPEYDD---LYCK YCFVYGQDWAPTAGLEEG
Xenopus laevis NVSGQIESAEFPEFDD---LYCK YSFVYGHDWAPTSGIEEG
Xenopus tropicalis NVSGQIESAEFPEFDD---LYCK YSFVYGHDWAPTSGVEEG
Zebrafish MVNGQIESADFPEYDD---LYCK YCFVYGHDWAPTSGLEEG
Drosophila SIVGQIVSATFPLGPDKEFVFLR YEMVAGPDWQLSSGPQHG
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 – 204 B9 domain-containing protein 1
9 – 127 C2 B9-type
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Romani M.; Micalizzi A.; Kraoua I.; Dotti M.T.; Cavallin M.; Sztriha L.; Ruta R.; Mancini F.; Mazza T.; Castellana S.; Hanene B.; Carluccio M.A.; Darra F.; Mate A.; Zimmermann A.; Gouider-Khouja N.; Valente E.M.;
Orphanet J. Rare Dis. 9:72-72(2014)
Cited for: INVOLVEMENT IN JBTS27; VARIANTS JBTS27 CYS-32; GLN-156 AND VAL-174 DEL;
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.