Variant position: 561 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1043 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 LSGLSSSVDDYPVDTIAKRF RYDSALVSALMDMEEDILEGM
Mouse LSGLASSVDEYPVDTIAKRF RYDSALVSALMDMEEDILEGM
Pig LSGLSSSVDDYPVDTIAKRF RYDSALVSALMDMEEDILEGM
Rabbit LSGLSSSVDDYPVDTIAKRF RYDSALVSALMDMEEDILEGM
Chicken LSGLPLSIDDYPIDTIAKRF RYDTALVSALKDMEEEILEGM
Xenopus laevis LSGLNQSLDEYPVDTISKRF RYDAALVSALKDMEEDILEGL
Zebrafish LSGWTVSVDDVPADTISRRF RYDVALVSALKDLEEDIMEGL
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
1 – 1043 V(D)J recombination-activating protein 1
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A.; Santagata S.; Bozzi F.; Giliani S.; Frattini A.; Imberti L.; Gatta L.B.; Ochs H.D.; Schwarz K.; Notarangelo L.D.; Vezzoni P.; Spanopoulou E.;
Cited for: VARIANTS OS CYS-396; HIS-396; GLY-429; HIS-561; CYS-561; HIS-737 AND CYS-912;
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