Variant position: 24 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 IEWAMWANEQALASGLILIT GGIVATAGRFTQWYFGAYSIV
Mouse IEWAMWANEQALASGLILIT GGIVATAGRFTQWYFGAYSIA
Rat IEWAMWANEQALASGLILIT GGIVATAGRFTQWYFGAYSIV
Pig IEWAMWANEQALASGLILMT GGIVATAGQFTQWYLGTYSIA
Bovine IEWAMWANEQALASGLILIT GGIVATAGQFTQWYLGAYSIA
Rabbit IEWAMWANEQALASGLILVA GGIVATAGRFTQWYFGTYAIA
Slime mold FKLGNWAAMIGMAACWCLIA GGIMGIW--YERRYIAIYSIC
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
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).
Rae J.; Noack D.; Heyworth P.G.; Ellis B.A.; Curnutte J.T.; Cross A.R.;
Cited for: VARIANTS ARCGD ARG-24; VAL-25; PRO-52; TRP-90 AND ARG-118;
Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.
Yamada M.; Ariga T.; Kawamura N.; Ohtsu M.; Imajoh-Ohmi S.; Ohshika E.; Tatsuzawa O.; Kobayashi K.; Sakiyama Y.;
Br. J. Haematol. 108:511-517(2000)
Cited for: VARIANT ARCGD ARG-24;
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;
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