Variant position: 440 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 LQHNKIFVNQDSNSGKWLLT RRIFLVDAVSGRENDLGTQPR
Mouse LQHNKLFVNQDSSSSKWLLT RRIFLVDAVSGRENDLGNQPR
Rat LQHNKLFVNQDSSSSKWLLT RRIFLVDAVSGRENDLGNQPR
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
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Consugar M.B.; Kubly V.J.; Lager D.J.; Hommerding C.J.; Wong W.C.; Bakker E.; Gattone V.H. II; Torres V.E.; Breuning M.H.; Harris P.C.;
Hum. Genet. 121:591-599(2007)
Cited for: VARIANTS MKS3 208-ARG--ILE-995 DEL; THR-252; GLN-440; 451-ARG--ILE-995 DEL AND PRO-966;
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Brancati F.; Iannicelli M.; Travaglini L.; Mazzotta A.; Bertini E.; Boltshauser E.; D'Arrigo S.; Emma F.; Fazzi E.; Gallizzi R.; Gentile M.; Loncarevic D.; Mejaski-Bosnjak V.; Pantaleoni C.; Rigoli L.; Salpietro C.D.; Signorini S.; Stringini G.R.; Verloes A.; Zabloka D.; Dallapiccola B.; Gleeson J.G.; Valente E.M.;
Hum. Mutat. 30:E432-E442(2009)
Cited for: VARIANTS COACHS ARG-130; LYS-372; GLN-440; SER-590; GLY-728; ARG-782; SER-820 AND THR-833;
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J.; Salonen R.; Kohlschmidt N.; Peltonen L.; Kestilae M.;
Hum. Mutat. 30:E813-E830(2009)
Cited for: VARIANTS MKS3 CYS-54; PHE-245; THR-252; CYS-296 GLN-440; CYS-513; ARG-615 AND PRO-966;
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.