IthaID: 1030

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 69 GGT>AGT	HGVS Name:	HBB:c.208G>A
Hb Name:	Hb City of Hope	Protein Info:	β 69(E13) Gly>Ser
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
GAAGGCTCATGGCAAGAAAGTGCTC [A/C/G] GTGCCTTTAGTGATGGCCTGGCTCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLSAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

HbVar	dbSNP
OMIM	SwissVar
LOVD	ClinVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-chain variant
Allele Phenotype:	Silent Hb
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:	70932
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:	Caucasian, Italian, Jewish, Turkish
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Frequencies

Publications / Origin

Rahbar S, Asmerom Y, Blume KG, A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly----Ser., Hemoglobin , 8(4), 333-42, 1984 PubMed
Kutlar A, Kutlar F, Aksoy M, Gurgey A, Altay C, Wilson JB, Diaz-Chico JC, Hu H, Huisman TH, Beta-thalassemia intermedia in two Turkish families is caused by the interaction of Hb Knossos [beta 27(B9)Ala----Ser] and of Hb City of Hope [beta 69(E13)Gly----ser] with beta (0)-thalassemia., Hemoglobin, 13(1), 7-16, 1989 PubMed
De Angioletti M, Maglione G, Ferranti P, de Bonis C, Lacerra G, Scarallo A, Pagano L, Fioretti G, Cutolo R, Malorni A, Hb City of Hope [beta 69(E13)Gly----Ser] in Italy: association of the gene with haplotype IX., Hemoglobin , 16(1), 27-34, 1992 PubMed
Paradisi I, González N, Hernández A, Arias S, Hemoglobin S/hemoglobin City of Hope compound heterozygote with a SubSaharan genetic background and severe bone marrow hypoplasia., Invest Clin , 51(3), 403-14, 2010 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-11 16:37:05 (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	2015-07-16 10:33:11	The IthaGenes Curation Team	Reviewed. Allele phenotype corrected and references added.
4	2015-07-20 13:23:49	The IthaGenes Curation Team	Reviewed. Reference added.
5	2021-03-11 16:37:05	The IthaGenes Curation Team	Reviewed. Link added.

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