IthaID: 730

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 122 CAC>CAG [His>Gln]	HGVS Name:	HBA2:c.369C>G
Hb Name:	Hb Westmead	Protein Info:	α2 122(H5) His>Gln

Context nucleotide sequence:
CCGCCGAGTTCACCCCTGCGGTGCA [C/G] GCCTCCCTGGACAAGTTCCTGGCTT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVQASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	OMIM
SwissVar

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:	34403
Size:	1 bp
Located at:	α2
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Chinese, Laotian, Thai
Molecular mechanism:	Mutated Bohr effect
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

Fleming PJ, Hughes WG, Farmilo RK, Wyatt K, Cooper WN, Hemoglobin Westmead alpha 2 122(H5)His replaced by Gln beta 2: a new hemoglobin variant with the substitution in the alpha 1 beta 1 contact area., Hemoglobin , 4(1), 39-52, 1980 PubMed
Jiang NH, Liang S, Wen XJ, Liang R, Su C, Tang Z, Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage., Hemoglobin , 15(4), 291-5, 1991 PubMed
Gu YC, Gu LH, Wilson JB, Cepreganova B, Ramachandran M, Walker EL, Huisman TH, Potitong P, Hb Westmead [alpha 122(H5)His----Gln], Hb E [beta 26(B8)Glu----Lys], and alpha-thalassemia-2 (3.7 Kb deletion) in a Laotian family., Hemoglobin , 15(4), 297-302, 1991 PubMed
Wong WS, Chan AY, Yip SF, Ma ES, Thalassemia intermedia due to co-inheritance of beta0/beta(+)-thalassemia and (- -SEA) alpha-thalassemia/Hb Westmead [alpha122(H5)His > Gln (alpha2)] in a Chinese family., Hemoglobin , 28(2), 151-6, 2004 PubMed
Viprakasit V, Ekwattanakit S, Chalaow N, Riolueang S, Wijit S, Tanyut P, Chat-Uthai N, Tachavanich K, Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G)., Acta Haematol. , 131(2), 88-94, 2014 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2017-06-01 16:09:34 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-14 18:41:12	The IthaGenes Curation Team	Reviewed. Added common name, references and ClinVar link.
4	2017-06-01 16:09:34	The IthaGenes Curation Team	Reviewed. Other Details section updated. Reference added.

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