IthaID: 3559

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 65 AAG>GAG [Lys>Glu]	HGVS Name:	HBB:c.196A>G
Hb Name:	Hb Guangxi	Protein Info:	β 65(E9) Lys>Glu

Context nucleotide sequence:
CAACCCTAAGGTGAAGGCTCATGGC [A>G] AGAAAGTGCTCGGTGCCTTTAGTGA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGEKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a female from Guilin municipality in the Guangxi Zhuang Autonomous Region. Variant interfered with Hb A1c analysis by CapillaryS2 resulting in no Hb A1c value. It was characterized by both CE and HPLC (VARIANT II). The isopropanol test for Hb stability was negative and no inclusions were observed under the microscope.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-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:	11
Locus:	NG_000007.3
Locus Location:	70920
Size:	1 bp
Located at:	β
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

Xu M, Chen WD, Wang YJ, Zhou Y, Li J, Xu AP, Ji L, Hb Guangxi [β65(E9)Lys→Glu (>AG); : c.196A>G]: A Novel β-Globin Variant., Hemoglobin, 2019 PubMed

Created on 2020-01-17 11:53:19, Last reviewed on 2020-01-17 11:55:36 (Show full history)

A/A	Date	Curator(s)	Comments
1	2020-01-17 11:53:19	The IthaGenes Curation Team	Created
2	2020-01-17 11:54:00	The IthaGenes Curation Team	Reviewed. Reference added.
3	2020-01-17 11:55:36	The IthaGenes Curation Team	Reviewed. Edits

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