Variant position: 124 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 195 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 LLATILGTACLAIASGIYLL AAVRGEQWTPIEPKPRERPQI
Mouse LLATILGTVCLAIASVIYLL AAIRGEQWTPIEPKPKERPQV
Rat LLATILGTVCLAIASVIYLL AAIRGEQWTPIEPKPKERPQV
Pig LLATILGTACLAIASGIYLL AAIRGEQWTPIEPKPKERPQV
Bovine LLATILGTACLAIASGIYLL AAIRGEQWSPIEPKPKERPQI
Rabbit LLATILGTVCLVIASIIYLL AAVRGEQWTPIEPRPKERPQV
Slime mold LVPTMLAAMVMDISAVVFLI SAIKGERGDFFDKQD------
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 – 195 Cytochrome b-245 light chain
91 – 127
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 ARCGD ARG-24 AND VAL-124;
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
Koeker M.Y.; Camcioglu Y.; van Leeuwen K.; Kilic S.S.; Barlan I.; Yilmaz M.; Metin A.; de Boer M.; Avcilar H.; Patiroglu T.; Yildiran A.; Yegin O.; Tezcan I.; Sanal O.; Roos D.;
J. Allergy Clin. Immunol. 132:1156-1163(2013)
Cited for: VARIANTS ARCGD ARG-24; ASP-25; VAL-124 AND THR-125;
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.