Variant position: 138 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 171 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 LVIWWQRVYVFPPKPITLTD ERKAQQLQRMLDMKVNPVQGL
Mouse LVIWWQRVYVFPKKVVTLTE ERKAQQLQRLLDMKSNPIQGL
Rat LVIWWQRVYVFPKKVVTLTE ERKAQQLQRLLDMKSNPIQGL
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.
Shteyer E.; Saada A.; Shaag A.; Al-Hijawi F.A.; Kidess R.; Revel-Vilk S.; Elpeleg O.;
Am. J. Hum. Genet. 84:412-417(2009)
Cited for: VARIANT EPIDACH LYS-138; CHARACTERIZATION OF VARIANT EPIDACH LYS-138;
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.