IthaID: 209

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	IVS II-535 - CD 108 (+23, -310, +28)	HGVS Name:	HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT]
Hb Name:	Hb Jambol	Protein Info:	β nts 1046 - 1357 deleted AND nts AATATATTTTTAATATACTTTTT inserted between nts 1030 and 1031 of β AND nts CAGGTGCCATCTGTCACCCTTTTCTTTG inserted between nts 1045 and 1358 of β

Context nucleotide sequence:
GCTTTCTTCTTTTAATATACTTTTT [-/AATATATT] TGTTTATCTTATTTCTAATACTTTC (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP	LOVD
LOVD

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-thalassaemia, β-chain variant
Allele Phenotype:	Dominant
Stability:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71590
Size:	310 bp
Located at:	β

Other details

Type of Mutation:	Insertion & Deletion
Ethnic Origin:	Bulgarian
Molecular mechanism:	N/A
Inheritance:	Dominant
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Efremov GD, Simjanovska L, Plaseska-Karanfilska D, Stanojevic E, Petkov GH, Hb Jambol: a new hyperunstable hemoglobin causing severe hemolytic anemia., Acta haematologica, 117(1), 1-7, 2007 PubMed
Efremov GD, Dominantly Inherited beta-Thalassemia., Hemoglobin , 31(2), 193-207, 2007 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.

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