Variant position: 101 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 570 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 GSSACCSTRVRRQLDRNLTF HKMVAWMIALHSAIHTIAHLF
Mouse GSSACCSTRIRRQLDRNLTF HKMVAWMIALHTAIHTIAHLF
Bovine GSSACCSTRIRRQLDRNLTF HKMVAWMIALHTAIHTIAHLF
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
2 – 570 Cytochrome b-245 heavy chain
70 – 102 Cytoplasmic
54 – 286 Ferric oxidoreductase
101 – 101 Iron (heme axial ligand)
115 – 115 Iron (heme axial ligand)
A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.
Tsuda M.; Kaneda M.; Sakiyama T.; Inana I.; Owada M.; Kiryu C.; Shiraishi T.; Kakinuma K.;
Hum. Genet. 103:377-381(1998)
Cited for: VARIANT CGD TYR-101;
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
Ishibashi F.; Nunoi H.; Endo F.; Matsuda I.; Kanegasaki S.;
Hum. Genet. 106:473-481(2000)
Cited for: VARIANTS CGD MET-54; ASP-55; GLU-57; TYR-101; ARG-209; GLY-224; LYS-309; TYR-338; HIS-339; PHE-344; GLU-389; PRO-420 AND ARG-516;
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.