Details

SpeciesHuman
Species subgroup
Subgroup type
Sequence NameIGHV1-69*i04
IUIS Name
Alternative names
Affirmation Level1
Full Sequence
Coding Sequence
FunctionalityORF
Inference TypeRearranged Only
MappedFalse
Paralogs
Paralog RepFalse

Evidence

The table below lists submissions to IARC , and the inferences within them, on which this IARC-affirmed sequence is based.

'Sequence Match' indicates whether the inference exactly matches the sequence, and clicking on the tick or cross will provide an alignment. Mismatches may be caused, for example, by the inclusion of leader sequences, or nucleotides in the inference which do not in IARC's opinion have sufficient evidence for inclusion in the sequence.

Submission IDAccession NoSubject IDGenotype NameSequence NameSequence Match
S00037 OW151137S45P1_I48_S1_ogrdb_reportIGHV1-69*06_G240A

Observations in VDJbase

Inferred sequences in VDJbase that match this sequence:

VDJbase Allele NameSubjectsSequence Match
IGHV1-69*06_g240a 1

Un-rearranged Observations

Un-rearranged sequence observations that support this sequence:

No Items

CDR delineation

CDR1 Start76
CDR1 End99
CDR2 Start151
CDR2 End174
CDR3 Start289

Extension

3' ExtensionA
3' start
3' end

Additional Information

Sequence IDA02559
CuratorWilliam Lees
Curator addressBirkbeck College, University of London, Malet Street, London
Version3
Release Date2023-07-10
Release Notes

Bulk upload of sequences for the AIRR-C Human IG germline sets

LocusIGH
Sequence TypeV
Gene Subgroup1
Gene Designation69
Allele Designationi04

Acknowledgements

Individuals acknowledged as contributing to this sequence:

No Items

Notes

Notes are added by IARC reviewers.

This inferred allele was assessed at IARC meeting 100 on June 8th, 2022. IGHV1-69*06_G240A was inferred in subject S45 (VDJ-base: P1_I48_S1). The genotype also carried IGHV1-69*01 and IGHV1-69*06. Given the common duplication of IGHV1-69 in the human IGHV locus, this is not an unexpected finding. The inference was supported by a relative large number of sequences (680) and unmutated sequences (627), a high overall frequency in the unmutated population (2.4%) and a large and diverse set of unique CDR3s (607) in the unmutated sequence set. Its allelic ratio was 22%. Haplotyping based on allelic diversity in IGHJ6 was not possible. IARC affirms the sequence at level 1 up to and including base 319 in agreement with past practice. It is acknowledged that the allele most likely carries one additional base, typically A at base position 320. A trailing “.” indicates IARC’s opinion that the sequence is likely to contain one additional 3’-nucleotides for which there is insufficient evidence to make an affirmation. The allele is given the name IGHV1-69(D)*i04. This name highlights the uncertainty of which of the two duplicated genes the allele is most likely associated with.

Additional information for this sequence was imported into OGRDB via bulk update with the following notes:
Sequence annotation is based on VDJbase sample(s)
VDJbase example haplotype: P1_I48

Attachments

No Items

History

History logs the times and reasons for the publication of each version of this sequence.

Mats Ohlin
2022-07-25 10:52:55
Version 1 published

The allele was published by IARC on July 25th, 2022.

William Lees
2023-07-10 11:20:54
Version 2 published

(D) removed from name as this designation is not used in the AIRR-C human germline sets

William Lees
2023-07-10 11:24:36
Version 3 published

Bulk upload of sequences for the AIRR-C Human IG germline sets

Changes from previous version

v2v3
CuratorMats OhlinWilliam Lees
Curator addressDept. of Immunotechnology, Lund University, Medicon Village building 406, S-22381 Lund, SwedenBirkbeck College, University of London, Malet Street, London
Alternative namesIGHV1-69*06 G240A,IGHV1-69(D)*i04
Chromosome14
FunctionalityFORF
Inference TypeRearrangedRearranged Only
Subgroup typenone
Gene Designation1-69(D)69
Full Sequence
Codon Frame1
Extension?FalseTrue
3' ExtensionA
5' Extension
Noteschanged

Versions

All published versions of this sequence.

Sequence NameIMGT NameAlternative namesInference TypeAffirmation LevelSpecies subgroupSubgroup typeVersionDate
IGHV1-69*i04IGHV1-69*06 G240A,IGHV1-69(D)*i04Rearranged1none22023-07-10
IGHV1-69*i04Rearranged Only132023-07-10