IthaID: 3547

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 89 AGT>AAT [Ser>Asn]	HGVS Name:	HBD:c.269G>A
Hb Name:	Hb A2-Pistoia	Protein Info:	δ 89(F5) Ser>Asn

Context nucleotide sequence:
TCAAGGGCACTTTTTCTCAGCTGA [G>A] TGAGCTGCACTGTGACAAGCTGC (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLNELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Heterozygote phenotype. RBC indices: Normochromic normocytic RBC. Capillary electrophoresis: Hb A2 1.1 %. Hb X 0.6 % of total Hb. HbX is separated from HbA2 on the Capillarys 3 Tera system.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

dbSNP

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	δ-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:	63579
Size:	1 bp
Located at:	δ
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Italian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/A	Contributor(s)	Date	Comments
1	Coviello, Domenico	2019-12-12	First report.
2	Mogni, Massimo	2019-12-12	First report.

Created on 2019-12-16 16:28:41, Last reviewed on 2020-06-30 15:36:16 (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-12-16 16:28:41	The IthaGenes Curation Team	Created
2	2019-12-18 08:24:36	The IthaGenes Curation Team	Reviewed.
3	2019-12-18 08:25:31	The IthaGenes Curation Team	Reviewed. Contributor added.
4	2019-12-18 08:26:20	The IthaGenes Curation Team	Reviewed.
5	2019-12-20 10:41:43	The IthaGenes Curation Team	Reviewed. Protein info.
6	2020-06-30 15:36:16	The IthaGenes Curation Team	Reviewed. HbVar added.

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