Variant position: 300 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 YLIHESACWSDTLQRWFFLP RRASQERYSEKDDERKGANLL
Mouse YLIHESACWSDTLQRWFFLP RRASHERYSEKDDERKGSNLL
Rat YLIHESACWSDTLQRWFFLP RRASHERYSEREDERKGSNLL
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
Identification of CANT1 mutations in Desbuquois dysplasia.
Huber C.; Oules B.; Bertoli M.; Chami M.; Fradin M.; Alanay Y.; Al-Gazali L.I.; Ausems M.G.; Bitoun P.; Cavalcanti D.P.; Krebs A.; Le Merrer M.; Mortier G.; Shafeghati Y.; Superti-Furga A.; Robertson S.P.; Le Goff C.; Muda A.O.; Paterlini-Brechot P.; Munnich A.; Cormier-Daire V.;
Am. J. Hum. Genet. 85:706-710(2009)
Cited for: VARIANTS DBQD LEU-299; CYS-300 AND HIS-300;
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T.; Dai J.; Cho T.J.; Sakazume S.; Ikema M.; Matsui Y.; Baynam G.; Nagai T.; Miyake N.; Matsumoto N.; Ohashi H.; Unger S.; Superti-Furga A.; Kim O.H.; Nishimura G.; Ikegawa S.;
J. Med. Genet. 48:32-37(2011)
Cited for: VARIANTS DBQD CYS-125; THR-165; PRO-224; MET-226 AND ASP-360; CHARACTERIZATION OF VARIANTS DBQD CYS-125; THR-165; PRO-224; MET-226; CYS-300 AND ASP-360; CHARACTERIZATION OF VARIANTS THR-323 AND GLU-391;
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.