Variant position: 323 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 764 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 YGVKPRYGLVTYATYPKIWV KVSEADSSNADWVTKQLNEIN
Gorilla YGVKPRYGLVTYATYPKIWV KVSDPDSSNADWVTKQLNEIN
Chimpanzee YGVKPRYGLVTYATHPKIWV KVSDPDSSNADWVTKQLNEIN
Mouse YGVRPRYGLLTYATVPKVLV RVSDERSSDADWVTEKLNQIS
Bovine YGVKPKYGLVTYATEPKVLI RVSDPKSSEADWVTDQLNQIN
Slime mold -----------FNEIPTTFL I-----SSNGDYVVILLE---
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.
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
Goicoechea de Jorge E.; Harris C.L.; Esparza-Gordillo J.; Carreras L.; Arranz E.A.; Garrido C.A.; Lopez-Trascasa M.; Sanchez-Corral P.; Morgan B.P.; Rodriguez de Cordoba S.;
Proc. Natl. Acad. Sci. U.S.A. 104:240-245(2007)
Cited for: VARIANTS AHUS4 LEU-286 AND GLU-323; CHARACTERIZATION OF VARIANTS AHUS4 LEU-286 AND GLU-323;
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.