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:

Comments: Found in a newborn female twin. The younger sister presented with Hb 14. g/dL, RBC 3.86×1012/L, MCV 110.4 fL, MCH 36.3 pg and the elder sister with Hb 13.1 g/dL, RBC 3.80×1012/L, MCV 106.3 fL and MCH 34.5 pg. Capillary electrophoresis revealed that HbX and HbA are completely separated on the capillary 2 Flex Piercing device. The cord blood results shown HbX 12.7 %, HbA 18.2 %, HbF 69.1 % and HbX 11.6 %, HbA 20.7 %, HbF 67.7 % from the younger and elder sister respectively.

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:	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

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/A	Contributor(s)	Date	Comments
1	Li, Youqiong	2021-02-24	First report.

Created on 2021-02-24 17:01:52, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-02-24 17:01:52	The IthaGenes Curation Team	Created

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