IthaID: 3749


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 74 GAC>GGC [Asp>Gly] HGVS Name: HBA2:c224A>G
Hb Name: Hb Liangqing Protein Info: N/A

Context nucleotide sequence:
CTGACCAACGCCGTGGCGCACGTGG [A/G] CGACATGCCCAACGCGCTGTCCGCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVGDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Chapel Hill

Comments: Found in a heterozygous state in a newborn female twin pair with no clinical presentation. HbX (11.6% and 12.7%) was separated from HbA by capillary electrophoresis. This variant was also found in a heterozygous state in three members of a Chinese family, all asymptomatic [PMID 3693273].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34116
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Tang B, Wang J, Qin D, Yao C, Chen K, Liang L, Chai H, Guo H, Du L, Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family., Hematology, 28(1), 2187154, 2023

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2021-02-24First report.
Created on 2021-02-24 17:01:52, Last reviewed on 2023-04-06 17:06:01 (Show full history)

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