Sequence information
Variant position: 95 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 607 The length of the canonical sequence.
Location on the sequence:
APGNRTVDLFPVLPICVCDL
T PGACDINCCCDRDCYLLHPR
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 APGNRTVDLFPVLPICVCDLT PGACDINCCCDRDCYLLHPR
Mouse MPVNATTDPFPALPICVCDLT PGTCDLNCCCDKDCDLLHPR
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
Chain
23 – 607
Tectonic-3
Topological domain
23 – 581
Extracellular
Compositional bias
90 – 109
Cys-rich
Glycosylation
78 – 78
N-linked (GlcNAc...) asparagine
Alternative sequence
1 – 151
Missing. In isoform 3.
Literature citations
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
Bader I.; Decker E.; Mayr J.A.; Lunzer V.; Koch J.; Boltshauser E.; Sperl W.; Pietsch P.; Ertl-Wagner B.; Bolz H.; Bergmann C.; Rittinger O.;
Eur. J. Med. Genet. 59:386-391(2016)
Cited for: VARIANT PRO-95;
Disclaimer:
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.