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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.

Tutorials:

• Somatic hypermutations

See also:

• Allele
• DNA
• IMGT Locus in Focus
• Polymorphism
• Probes
• RFLP
• Transition
• Transversion

Created: 07/01/2000
Last updated: Thursday, 15-Sep-2011 11:03:59 CEST
Author: Marie-Paule Lefranc
Editors: Manuel Ruiz and Chantal Ginestoux
Contact: Marie-Paule Lefranc

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Software material and data coming from IMGT server may be used for academic research only, provided that it is referred to IMGT®, and cited as "IMGT®, the international ImMunoGeneTics information system® http://www.imgt.org (founder and director: Marie-Paule Lefranc, Montpellier, France)." References to cite: Lefranc, M.-P. et al., Nucleic Acids Research, 27, 209-212 (1999) Cover of NAR; Ruiz, M. et al., Nucleic Acids Research, 28, 219-221 (2000); Lefranc, M.-P., Nucleic Acids Research, 29, 207-209 (2001); Lefranc, M.-P., Nucleic Acids Res., 31, 307-310 (2003); Lefranc, M.-P. et al., In Silico Biol., 5, 0006 (2004) [Epub], 5, 45-60 (2005); Lefranc, M.-P. et al., Nucleic Acids Res., 33, D593-D597 (2005) Full text; Lefranc, M.-P. et al., Nucleic Acids Research 2009 37: D1006-D1012; doi:10.1093/nar/gkn838 Full text.
For any other use please contact Marie-Paule Lefranc Marie-Paule.Lefranc@igh.cnrs.fr.

     

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