IthaID: 3065

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 86 GCC>ACC [Ala>Thr]	HGVS Name:	HBB:c.259G>A
Hb Name:	Hb Seoul	Protein Info:	N/A

Context nucleotide sequence:
TGGACAACCTCAAGGGCACCTTT [G>A] CCACACTGAGTGAGCTGCACTGTGA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFTTLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a heterozygous state in a Korean male presenting with erythrocytosis. No mutations found in JAK2, BPGM, EGLN1, EPAS, EPOR and VHL genes. β86(F2) is a critical haemoglobin residue that affects the oxygen affinity

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
LOVD

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:	70983
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:	Korean
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Shin SY, Bang SM, Kim HJ, A Novel Hemoglobin Variant Associated with Congenital Erythrocytosis: Hb Seoul [β86(F2)Ala→Thr] (HBB:c.259G>A)., Ann. Clin. Lab. Sci. , 46(3), 312-4, 2016

Created on 2016-09-06 12:10:10, Last reviewed on 2019-11-15 12:54:44 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-09-06 12:10:10	The IthaGenes Curation Team	Created
2	2016-09-06 12:13:27	The IthaGenes Curation Team	Reviewed. dbSNP added.
3	2019-11-15 12:54:08	The IthaGenes Curation Team	Reviewed. Allele and Context sequence added. Allele phenotype corrected. Comment edited.
4	2019-11-15 12:54:44	The IthaGenes Curation Team	Reviewed. HbVar link added.

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