IthaID: 3766

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 30 GAG>CAG [Glu>Gln]	HGVS Name:	HBA2:c.91G>C
Hb Name:	Hb G-Honolulu	Protein Info:	α2 30(B11) Glu>Gln

Context nucleotide sequence:
TGGCGAGTATGGTGCGGAGGCCCTG [G/C] AGAGGTGAGGCTCCCTCCCCTGCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALQRMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in 5 cases presented with Hb range 12.6- 14.2 g/dL, MCV 76.8-89.6 fL, MCH 26.4-29 pg, and RBC 4.92 10^12/L. Capillary electrophoresis shown normal levels of HbA2 (1.8- 1.9 %) with abnormal peak 23.1-23.5% (at Z6) and 0.6% (at Z1), whereas HPLC analysis shown elevated levels of HbA2 of 19.6-23.4% with small peak at S zone (0.8%). The G>C substitution found in both HBA1 and HBA2 genes.

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	33866
Size:	1 bp
Located at:	α2
Specific Location:	Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Chang JG, Shih MC, Liu SC, Chen CM, Chan WL, Lee TP, Peng CT, Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family., Hemoglobin , 26(3), 325-8, 2002 PubMed
Paleari R, Caruso D, Giavarini F, Colzani C, Brunati P, Mosca A, The first case of Hb G-Honolulu [α30(B11)Glu→Gln (GAG>CAG); HBA2:c.91G>A] observed in association with Hb S [β6(A3)Glu→Val, GAG>GTG] in a healthy Italian child., Hemoglobin , 36(1), 73-9, 2012 PubMed
Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed

Microattributions

A/A	Contributor(s)	Date	Comments
1	Mohd Yasin, Norafiza	2020-11-24	First report.

Created on 2021-04-02 11:02:53, Last reviewed on 2021-04-07 10:00:54 (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-04-02 11:02:53	The IthaGenes Curation Team	Created
2	2021-04-07 09:59:03	The IthaGenes Curation Team	Reviewed. References added.
3	2021-04-07 10:00:54	The IthaGenes Curation Team	Reviewed. References added.

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.