Variant position: 226 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 GTVEKGFKAEWLAVKDERLY VGGLGKEWTTTTGDVVNENPE
Mouse GTVEKGFKAEWLAVKDEHLY VGGLGKEWTTTTGEVMNENPE
Rat GAVEKGFKAEWLAVKDEHLY VGGLGKEWTTTTGEVVNENPE
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
215 – 215 Calcium; via carbonyl oxygen
220 – 245 KDERLYVGGLGKEWTTTTGDVVNENP -> REIVRKRWRLVKQVSHVGVLGQWIQR. In isoform 2.
215 – 215 E -> Q. Reduces activity by 99%.
246 – 246 E -> M. Increases activity 5-fold.
223 – 227
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
Balasubramanian K.; Li B.; Krakow D.; Nevarez L.; Ho P.J.; Ainsworth J.A.; Nickerson D.A.; Bamshad M.J.; Immken L.; Lachman R.S.; Cohn D.H.;
Am. J. Med. Genet. A 173:2415-2421(2017)
Cited for: INVOLVEMENT IN EDM7; VARIANTS EDM7 PHE-171 AND MET-226;
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
Dai J.; Kim O.H.; Cho T.J.; Miyake N.; Song H.R.; Karasugi T.; Sakazume S.; Ikema M.; Matsui Y.; Nagai T.; Matsumoto N.; Ohashi H.; Kamatani N.; Nishimura G.; Furuichi T.; Takahashi A.; Ikegawa S.;
J. Hum. Genet. 56:398-400(2011)
Cited for: VARIANT DBQD1 MET-226;
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.