IthaID: 1169

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 107 GGC>GAC	HGVS Name:	HBB:c.323G>A
Hb Name:	Hb Lulu Island	Protein Info:	β 107(G9) Gly>Asp

Context nucleotide sequence:
CTTATCTTCCTCCCACAGCTCCTGG [A/G] CAACGTGCTGGTCTGTGTGCTGGCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLDNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71897
Size:	1 bp
Located at:	β
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	East Indian, Greek Albanian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Gray GR, Manson HE, Gu LH, Leonova JYe , Huisman TH, Hb Lulu Island (alpha 2 beta 2 107[G9]Gly-->Asp)-beta zero- thalassemia (codon 15; TGG-->TAG), a form of thalassemia intermedia., American journal of hematology, 50(1), 26-9, 1995 PubMed
Papassotiriou I, Stamoulakatou A, Wajcman H, Kister J, Dimisianos G, Lazaropoulou C, Kanavaki I, Vavourakis E, Kattamis A, Kanavakis E, Traeger-Synodinos J, Observation of a rare hemoglobin variant [Hb Lulu island, beta107(G9)Gly-->Asp, GGC-->GAC] co-inherited with a beta+-thalassemia mutation [IVS-I-110 (G-->A)] or in the heterozygous state in a Greek-Albanian family., Hemoglobin, 30(4), 409-18, 2006 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2021-01-20 12:07:47 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2021-01-20 12:07:47	The IthaGenes Curation Team	Reviewed. Reference and Ethnic origin added.

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