Variant position: 165 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 VEWDKDHGVLESHLAEKGRG MELSDLIVFNGKLYSVDDRTG
Mouse VEWDKDHGVLESHLAEKGRG MELSDLIVFNGKLYSVDDRTG
Rat VEWDKDRGVLESHLAEKGRG MELSDLIVFNGKLYSVDDRTG
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
168 – 168 Calcium; via carbonyl oxygen
169 – 169 Calcium
160 – 160 Important for dimer formation
152 – 152 G -> E. Slightly reduced activity.
160 – 160 E -> Y. Increases GDPase activity 2-fold and ADPase activity 5-fold. Forms dimer even at suboptimal Ca(2+) concentrations.
163 – 163 R -> A. Reduces activity by 98%.
166 – 166 E -> Q. Reduces activity by 95%.
168 – 168 S -> A. Reduces activity by over 99.9%.
169 – 169 D -> N. Reduces activity by 96%.
181 – 181 D -> A. Loss of activity.
182 – 182 D -> N. Reduces activity by over 99.9%.
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 DBQD1 CYS-125; THR-165; PRO-224; MET-226 AND ASP-360; CHARACTERIZATION OF VARIANTS DBQD1 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.