IthaID: 588

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 64 GAC>AAC [Asp>Asn]	HGVS Name:	HBA2:c.193G>A
Hb Name:	Hb G-Waimanalo	Protein Info:	α2 64(E13) Asp>Asn

Context nucleotide sequence:
TAAGGGCCACGGCAAGAAGGTGGCC [G/A] ACGCGCTGACCAACGCCGTGGCGCA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVANALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Aida

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	OMIM

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:	34085
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:	Filipino, Indian, Romanian, Spanish
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

Blackwell RQ, Jim RT, Tan TG, Weng MI, Liu CS, Wang CL, Hemoglobin G Waimanalo: alpha-64 Asp leads to Asn., Biochim. Biophys. Acta , 322(1), 27-33, 1973 PubMed
Bunn HF, Altman AJ, Stangland K, Firshein SI, Forget B, Schmidt GJ, Jones RT, Hemoglobins Aida (alpha 64 Asp leads to Asn) and D-Los Angeles (beta 121 Glu leads to Gln) in an Asian-Indian family., Hemoglobin , 2(6), 531-40, 1978 PubMed
Baine RM, Wright JM, Wilkinson RW, HB G Waimanalo (alpha 64 Asp replaced by Asn) in a child with homozygous beta-thalassemia., Hemoglobin , 3(4), 293-8, 1979 PubMed
Harano T, Harano K, Ueda S, Shibata S, Imai K, Hemoglobin G Waimanalo [alpha 64 (E13) Asp replaced by Asn] in a Japanese. Hematologic, functional and synthesis studies., Hemoglobin , 5(6), 591-7, 1981 PubMed
Manca L, Masala B, Manca M, Ferranti P, Pucci P, Hb G-Waimanalo [alpha 64(E13)Asp-->Asn] observed in a Caucasian family., Hemoglobin , 18(1), 53-6, 1994 PubMed
Landin B, Berg P, Alpha 2-globin gene mutation Hb G-Waimanalo: occurrence in combination with alpha-thalassemia-1., Hemoglobin , 18(1), 71-2, 1994 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2022-07-08 13:42:11 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-10 08:08:44	The IthaGenes Curation Team	Reviewed.
4	2014-04-24 12:02:54	The IthaGenes Curation Team	Reviewed. Added ClinVar link.
5	2021-01-15 14:32:59	The IthaGenes Curation Team	Reviewed. HGVS name corrected and Reference added.
6	2022-07-08 13:42:11	The IthaGenes Curation Team	Reviewed. HGVS name corrected.

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