Variant position: 737 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 EVEGLEASGSVYICTLCDAT RLEASQNLVFHSITRSHAENL
Mouse EVEGLEASGSVYICTLCDTT RLEASQNLVFHSITRSHAENL
Pig EVEGLEASGSVYICTLCDAT RLEASQNLVFHSITRSHAENL
Rabbit EVEGLEASGSVYICTLCDAT RLEASQNLVFHSITRSHAENL
Chicken EVEGLEASGSTYICTLCDAT RLEASQNLVFHSITRSHAENL
Xenopus laevis EVEGLEASGSLYICTLCDAT RLEAAQNLVNHSITRSHCENL
Zebrafish EMEGLEASGSTYICTLCDST RAEASQNMVLHSITRSHDENL
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;
An immunodeficiency disease with RAG mutations and granulomas.
Schuetz C.; Huck K.; Gudowius S.; Megahed M.; Feyen O.; Hubner B.; Schneider D.T.; Manfras B.; Pannicke U.; Willemze R.; Knuechel R.; Goebel U.; Schulz A.; Borkhardt A.; Friedrich W.; Schwarz K.; Niehues T.;
N. Engl. J. Med. 358:2030-2038(2008)
Cited for: VARIANTS CHIDG TRP-314; TRP-507; HIS-737; GLN-778 AND TRP-975; CHARACTERIZATION OF VARIANTS CHIDG TRP-314; TRP-507; HIS-737; GLN-778 AND TRP-975;
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.