Variant position: 358 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 995 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 DIRGNFLKWQTLEGGVLQLC PDTETRLNAAYSFGTTYQQNC
Mouse DIRGNFIKWQPLEGGVLQLC PDTERRLDAAYAFGTTYQQNC
Rat DIRGNFIRWQTVKGGVLQLC PDTERRLDAAYSFGTTYQQNC
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
36 – 995 Meckelin
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D.; Parisi M.A.; Finn L.S.; Gunay-Aygun M.; Al-Mateen M.; Bates D.; Clericuzio C.; Demir H.; Dorschner M.; van Essen A.J.; Gahl W.A.; Gentile M.; Gorden N.T.; Hikida A.; Knutzen D.; Ozyurek H.; Phelps I.; Rosenthal P.; Verloes A.; Weigand H.; Chance P.F.; Dobyns W.B.; Glass I.A.;
J. Med. Genet. 47:8-21(2010)
Cited for: VARIANTS COACHS ASN-99; ARG-130; GLN-172; THR-242; THR-252; VAL-257; SER-349; LEU-358; LYS-372; GLU-376; CYS-441; SER-485; CYS-513; ARG-615; LEU-637; THR-833; PRO-841 AND CYS-942; VARIANTS JBTS6 ARG-82 AND SER-82;
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
Dafinger C.; Liebau M.C.; Elsayed S.M.; Hellenbroich Y.; Boltshauser E.; Korenke G.C.; Fabretti F.; Janecke A.R.; Ebermann I.; Nurnberg G.; Nurnberg P.; Zentgraf H.; Koerber F.; Addicks K.; Elsobky E.; Benzing T.; Schermer B.; Bolz H.J.;
J. Clin. Invest. 121:2662-2667(2011)
Cited for: VARIANTS JBTS6 LEU-358 AND THR-833;
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.