RHD(489delAGAC)

Structure

RHD(487del ACAG)

Key changes from standard allele

487del ACAG

ISBT allele designation

RHD*01N.13

Nucleotide changes relative to "standard RHD"

c.487 del ACAG

Amino acid changes relative to standard protein

not applicable

Haplotype (typical)

CDe

Allele cluster

Eurasian D cluster

Descriptions

First submission to GenBank: 1999 AF037626 (submitted 1997-12-10, released 1999-01-05)

First full publication: 1998 Andrews KT et. al. Blood. 1998 Sep 1;92(5):1839-40.

ISBT group

RHD negative

Phenotype characterization and grouping

D negative

Serology

No data

Observations

Canada (general): 1 of about 4000 D negative donors St-Louis R & et al. Vox Sanguinis (2012) 103 (Suppl. 1), 1â??271 Abstract 3C-S8-03
Pakistan: Saleheen D et. al. Nature. 2017 Apr 12;544(7649):235-239. doi: 10.1038/nature22034.

Additional comments

The mutation is located in a tandem repeat AGACAGAC stretching from IVS3-2 to Exon 4 pos 492. Initially, it was described as 487delACAG.

Last update: 2018-02-17 (yyyy-MM-dd)