Variant position: 303 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 401 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 HESACWSDTLQRWFFLPRRA SQERYSEKDDERKGANLLLSA
Mouse HESACWSDTLQRWFFLPRRA SHERYSEKDDERKGSNLLLSA
Rat HESACWSDTLQRWFFLPRRA SHERYSEREDERKGSNLLLSA
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 – 401 Soluble calcium-activated nucleotidase 1
63 – 401 Lumenal
284 – 284 Calcium
246 – 401 Missing. In isoform 2.
301 – 301 R -> A. Reduces activity by 99%.
300 – 305
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M.; Huber C.; De Leonardis F.; Merrina R.; Forlino A.; Fradin M.; Tuysuz B.; Abu-Libdeh B.Y.; Alanay Y.; Albrecht B.; Al-Gazali L.; Basaran S.Y.; Clayton-Smith J.; Desir J.; Gill H.; Greally M.T.; Koparir E.; van Maarle M.C.; Mackay S.; Mortier G.; Morton J.; Sillence D.; Vilain C.; Young I.; Zerres K.; Le Merrer M.; Munnich A.; Le Goff C.; Rossi A.; Cormier-Daire V.;
Hum. Mutat. 33:1261-1266(2012)
Cited for: FUNCTION IN PROTEOGLYCAN SYNTHESIS; VARIANTS DBQD HIS-300; ARG-303 AND ASN-374;
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.