IthaID: 3587



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 92 CGG>GGG [Arg>Gly] HGVS Name: HBA2:c.277C>G
Hb Name: Hb Leeuwarden Protein Info: p.Arg93Gly

Context nucleotide sequence:
GCCCTGAGCGACCTGCACGCGCACAAGCTT [C>G] GGGTGGACCCGGTCAACTTCAAGGTGAGC (Strand: -)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLGVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in heterozygote state in a 13-year old Dutch boy with normal haematology (Hb 13.4 g/dl, RBC 4.78 (10^12/l), MCV 82 fl, and MCH 28.0 pg). The HbX peak (19.4%) was detected on HPLC analysis.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34169
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:Silent Hb
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Dutch
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1L. Harteveld, Cornelis2020-05-08First report.
Created on 2020-05-09 12:20:04, Last reviewed on 2020-05-09 13:07:07 (Show full history)

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