Mutation
Mutations comprise the allele polymorphism mutations as for any other gene, and the somatic hypermutations which are specific of the immunoglobulin rearranged variable genes. The IMGT unique numbering [1] has allowed a standardized IMGT description of mutations.
The standardized description of mutations is used for:
- the description of sequence polymorphisms for the IG and TR of all vertebrates
- the somatic hypermutations for the IG rearranged variable genes
- the description of sequence polymorphisms for the V-LIKE-DOMAINs and C-LIKE-DOMAINs of the IgSF.
Mutations of the allele polymorphisms are represented in the Alignments of alleles [2] and Tables of alleles [3-7] (IMGT Repertoire) which have been set up for the coding regions of the IG and TR genes [8,9].
References:
[1] Lefranc, M.-P., The Immunologist, 7, 132-136 (1999)
[2] Lefranc, M.-P. et al., Nucleic Acids Res., 26, 297-303 (1998)
PMID: 9399859, LIGM:195
[3] Pallarès, N. et al., Exp. Clin. Immunogenet., 15, 8-18
(1998)
PMID: 9619396, LIGM:200
[4] Barbié, V. and Lefranc, M.-P., Exp. Clin. Immunogenet., 15,
171-183 (1998)
PMID: 9813414, LIGM:207
[5] Martinez, C. and Lefranc, M.-P., Exp. Clin. Immunogenet.,
15, 184-193 (1998)
PMID: 9813415, LIGM:208
[6] Pallarès, N. et al., Exp. Clin. Immunogenet., 16, 36-60
(1999)
PMID: 10087405, LIGM:210
[7] Ruiz, M. et al., Exp. Clin. Immunogenet., 16, 173-184 (1999)
PMID: 10394055, LIGM:211
[8] Lefranc, M.-P. and Lefranc, G., The Immunoglobulin FactsBook,
Academic Press, 458 pages (2001) ISBN:012441351X
[9] Lefranc, M.-P. and Lefranc, G., The T cell receptor FactsBook,
Academic Press, 398 pages (2001) ISBN:0124413528