Variant position: 841 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 NPNASKEERKRWQATLDKHL RKKMNLKPIMRMNGNFARKLM
Mouse HPNASKEERKRWQATLDKHL RKRMNLKPIMRMNGNFARKLM
Pig NPHASKEERKRWQATLDKHL RKKMNLKPIMRMNGNFARKLM
Rabbit NPSASKEERKRWQATLDKHL RKKMNLKPIMRMNGNFARKLM
Chicken NPDATKEERKRWQLTLDKHL RKKMKLKPMMRMSGNFARKLM
Xenopus laevis NLSATKEEKKRWQATLDNHI RKRMNLKPIMRMNGNFARKLM
Zebrafish KPNPSREERRRWRSTLDKQL RKKMKLKPVMRMNGNYARRLM
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
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
de Villartay J.-P.; Lim A.; Al-Mousa H.; Dupont S.; Dechanet-Merville J.; Coumau-Gatbois E.; Gougeon M.-L.; Lemainque A.; Eidenschenk C.; Jouanguy E.; Abel L.; Casanova J.-L.; Fischer A.; Le Deist F.;
J. Clin. Invest. 115:3291-3299(2005)
Cited for: VARIANTS T-CMVA TRP-841 AND PRO-981;
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