Variant position: 125 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 LATILGTACLAIASGIYLLA AVRGEQWTPIEPKPRERPQIG
Mouse LATILGTVCLAIASVIYLLA AIRGEQWTPIEPKPKERPQVG
Rat LATILGTVCLAIASVIYLLA AIRGEQWTPIEPKPKERPQVG
Pig LATILGTACLAIASGIYLLA AIRGEQWTPIEPKPKERPQVG
Bovine LATILGTACLAIASGIYLLA AIRGEQWSPIEPKPKERPQIG
Rabbit LATILGTVCLVIASIIYLLA AVRGEQWTPIEPRPKERPQVG
Slime mold VPTMLAAMVMDISAVVFLIS AIKGERGDFFDKQD-------
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
Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.
Teimourian S.; Zomorodian E.; Badalzadeh M.; Pouya A.; Kannengiesser C.; Mansouri D.; Cheraghi T.; Parvaneh N.;
Br. J. Haematol. 141:848-851(2008)
Cited for: VARIANT ARCGD THR-125;
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.