IMGT Repertoire (IG and TR)

Inferred functionality:(F)
Initially considered as an ORF, due to a non canonical V-HEPTAMER: CATAGTG instead of CACAGTG [11], has been found rearranged and transcribed in a 'productive' sequence (DQ101035)
Pseudogene because of an insertion, stop codons and frameshifts (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994)), VK1
no CONSERVED-TRP: STOP-CODON instead of Trp, several STOP-CODON in V-REGION, frameshift in V-REGION: insertion of 4 nt in FR3-IMGT
Pseudogene because of stop codons and one insertion (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994)), VK1
Pseudogene, Insertion of 1 bp (g) between codon 70 and 71, leading to a frameshift
frameshift in V-REGION: insertion of 1 nt in FR3-IMGT
Pseudogene because of insertions and deletions leading to frameshifts (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994)), VK1
Pseudogene because of insertions and one deletion (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994)), VK1
STOP-CODON in L-PART1, frameshifts in V-REGION: several insertions and deletions
Pseudogene because of an insertion and a deletion (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994))
frameshifts in V-REGION: deletion of 1 nt and insertion of 1 nt in FR1-IMGT
ORF because 2nd_CYS replaced by a Glycine in FR3-IMGT
because 2nd_CYS replaced by a Glycine
non canonical V-HEPTAMER: cacaggg instead of cacagtg
no INIT-CODON: Val instead of Met
no INIT-CODON: Val instead of Met, frameshifts in V-REGION: several insertions and deletions
no INIT-CODON: Val instead of Met, frameshift in V-REGION: deletion of 1 nt in FR3-IMGT
no INIT-CODON: Val instead of Met, frameshift in V-REGION: deletion of 1 nt in FR1-IMGT
no INIT-CODON:Ile instead of Met
5' part deleted, starts with codon 14 of FR1-IMGT
First fragment of the V-REGION
ORF because 1st-CYS replaced by a Phenylalanine in FR1-IMGT
Pseudogene because of an insertion leading to a frameshift in FR2 (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994))
no 2nd-CYS: STOP-CODON instead of Cys
In the absence of complete sequence the functionality (ORF) has been assigned based on the other alleles
Truncated
truncated pseudogene, no L-PART2, no V-RS
Pseudogene because V-REGION truncated, and stop codon in V-region (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994)), VK2
5' part of V-REGION truncated
truncated pseudogene, no L-PART2, several STOP-CODON in V-REGION
noncanonical ACCEPTOR-SPLICE: nggnn instead of nagnn
In the ID line RNA should be replaced by DNA, correction asked to EMBL on the 10/01/2001.
Chimeric sequence between IGKV3D-20 in 5', codons 1 to 106, and IGHV3D-11 in 3', codons 107 to 111, and absence of transcripts
Pseudogene because of a deletion leading to a frameshift (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994)), VK3
Pseudogene because of an insertion and a frameshift (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994)), VK3
STOP-CODON in L-PART1, frameshift in V-REGION: deletion of 2 nt in FR1-IMGT
Pseudogene because of stop codons, and insertion in FR3 leading to a frameshift (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994))
Pseudogene because stop codons, and insertion of 1 bp in FR3 (K.F. Schable and al., Biol. Chem. Hoppe-Seyler 375:189-199 (1994))
no INIT-CODON: Ile instead of Met, frameshift in L-PART1: insertion of 1 nt causing defectuous DONOR-SPLICE, frameshift in V-REGION: deletion of 1 nt in FR3-IMGT
Based on a 21 bp DELETION starting at nucleotide 4 of DECAMER (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)) (http://www.imgt.org/IMGTrepertoire/Regulation/promoters/human/IGK/IGKV/Hu_IGKVpromoters.html), the IGKV1-8 functionality was initially defined as "ORF". However the identification of several transcripts indicated that the IGKV1-8 gene is functional (Stamatopoulos K., Belessi C. and Lefranc M. P. 10/10/2007). As the deletion is not observed in KM455559, the 21 bp deletion in Z00014 may correspond to an artefact or to a promoter polymorphism of IGHV8*01.
Inferred allele: IMGT-NC_Report_2020-3-1120_Homsap_IGKV_IGLV.
TTTGCTT instead of TTTGCAT in the core sequence of the DECAMER element (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)), but transcript found (Giachino C. et al., J. Exp. Med., 181, 1245-1250 (1995)).
Means that the rearrangement, transcript or protein could not be assigned to the gene in the proximal or distal cluster.
It is not known if this sequence corresponds to that gene or to its duplicate. For that reason, the sequence appears twice in the IMGT/GENE-DB reference sequences.
CONSERVED-TRP replaced by a STOP-CODON in FR2-IMGT, and non canonical V-HEPTAMER: CATAGTG instead of CACAGTG (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
IGKV1-13*02, initially considered as an ORF, has been found rearranged and expressed in a functional anti-TPO sequence (clone TR1.9) (L12099) (Chazenbalk G.D. et al., J. Clin. Invest., 92, 62-74 (1993)) (N. Chapal, S. Roux, T. Chardes and M.-P. Lefranc, comment, 9/11/2000). The Fab of that clone has been crystallized and its 3D structure determined (PDB: 1vge). Note that the four first amino acids ELVM of the V-REGION in L12099 and PDB: 1vge are introduced by the primer. The IgA1 theoretical model (PDB: 1iga) uses the 1vge sequence and structure for the kappa chain (M.-P. Lefranc comments, 28/09/2001)
The sequence FM164407 previously designated as IGKV1D-17*02 has been shown to correspond to allele IGKV1-17*03 (19/01/2015).
Non canonical V-HEPTAMER: CACTGTG instead of CACAGTG (Chen P.P. et al., J. Immunol., 139, 1727-1733 (1987)), but rearrangement products and productive cDNA found ((Giachino C. et al., J. Exp. Med., 181, 1245-1250 (1995)) and see IMGT/GENE-DB).
As the DPK sequences only contain the V-REGION, some of them could be assigned neither to a gene or its duplicate, nor to any allele of the gene.
DELETION of nucleotide 4, and INSERTION of 1 bp at position 15/16. Defective DONOR-SPLICE (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
STOP-CODON in L-PART1 (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
TTTGCTT instead of TTTGCAT in the core sequence of the DECAMER, and altered V-HEPTAMER: CACAGGG instead of CACAGTG (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
No INIT-CODON: ATG replaced by GTG (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
DELETION of 1 bp at position 74 leading to a frameshift, no INIT-CODON: ATG replaced by GTG, and non canonical ACCEPTOR-SPLICE (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
No INIT-CODON: ATG replaced by GTG , CT instead of GT in ACCEPTOR_SPLICE, and DELETION of 1 bp at position 4 leading to a frameshift, and non canonical V-HEPTAMER (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
No INIT-CODON: ATG replaced by ATA (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
No Vk-gene related sequence was found upstream of codon 12, 5' part of V-REGION truncated (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
INSERTION of 1 bp in codon 45 (134^135>ins^a) and DELETION of 1 bp in codon 51 (g153>del) (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)). The insertion in codon 45 leads to a frameshift but the normal reading frame is reestablished by the deletion in codon 51. The resulting sequence shows six amino acid changes from codon 46 to 51 in the FR2-IMGT. The frameshift originally described in FR1-IMGT (Kimberly V.D. et al., J. Clin. Invest., 87, 1603-1613 (1991)) has not been confirmed.
STOP-CODON at position 88 in FR3-IMGT (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
The most 3' nucleotide of L-PART2 of A18c is A instead of G. This allele is described as IGKV2-29*03 (L-PART2 g12>a) according to the IMGT numbering for coding regions.
IGKV2D-29*02, initially considered as an ORF due to a non canonical V-HEPTAMER: CACAGAG instead of CACAGTG, has been found rearranged and transcribed in a 'productive' sequence (DQ101097).
GG instead of AG in the ACCEPTOR_SPLICE (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
STOP-CODON in CDR3 in codon 94 (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
The sequence L19272 obtained by Polymerase Chain Reaction (PCR) has the features of a chimeric sequence between two different genes belonging to the Homo sapiens IGKV3 subgroup (IGKV3D-20 in 5', codons 1 to 106, and IGHV3D-11*02 in 3', codons 107 to 111). This sequence has been assigned to IGKV3D-20*02 allele with the functionality ORF (chimeric sequence and absence of identified transcripts). This assignment needs to be confirmed by analysis of other genomic and mapped germline clones. (M-P. Lefranc, IMGT-NC, 15/02/15)
Heavily mutated, insertion of 1.2 kb in V-INTRON. INSERTION of: 3 bp in codon -14/13, 7 bp in codon 81, and DELETION of: 2 bp in codon 27A, 24 bp from codon 56 to 65, 1 bp in codon 83 [11].
IGKV4-1 is in an inverted orientation of transcription.
IGKV5-2 is in an inverted orientation of transcription.
IGKV6-21*01, initially considered as an ORF, due to a non canonical V-HEPTAMER: CACTGTG instead of CACAGTG (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)), has been found rearranged.
IGKV6D-21*01, initially considered as an ORF, due to a non canonical V-HEPTAMER: CACTGTG instead of CACAGTG (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)), has been found rearranged.
Non canonical V-HEPTAMER: CACTGTG instead of CACAGTG (Ichiyoshi Y. et al., J. Immunol., 154, 226-238 (1995)).
In EMBL, a new accession number M27751 was created, the original accession number X12688 becoming secondary accession number of M27751.

IMGT references: ↑

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IMGT Repertoire (IG and TR)

Dynamic gene tables per IMGT group and per species (IMGT/GeneTables)

Gene table legend:

IMGT notes: ↑

IMGT references: ↑

IMGT Repertoire (IG and TR)

Dynamic gene tables per IMGT group and per species (IMGT/GeneTables)

Version 1.4

Version 1.3

Version 1.2

Version 1.1

Version 1.0

Gene table legend:

IMGT notes: ↑

IMGT references: ↑