IthaID: 3301

Names and Sequences

Functionality:	Neutral polymorphism	Pathogenicity:	Benign / Likely Benign
Common Name:	TTS +26 A>G	HGVS Name:	HBA2:c.*136A>G

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
GCCTGTGTGTGCCTGGGTTCTCTCT [A/G] TCCCGGAATGTGCCAACAATGGAGG (Strand: +)

Comments: The location of this substitution is 48 nucleotides relative to poly A signal (+861 G>A).

External Links

dbSNP

ClinVar

Phenotype

Allele Phenotype:	Neutral
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34599
Size:	1 bp
Located at:	α2
Specific Location:	3'UTR

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Turkish, South Italian
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, Gaudiano C, Carestia C, Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE., Hum. Mutat. , 24(4), 338-49, 2004
Lacerra G, Musollino G, Di Noce F, Prezioso R, Carestia C, Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system., Haematologica , 92(2), 254-5, 2007
Cardiero G, Musollino G, Friscia MG, Testa R, Virruso L, Di Girgenti C, Caldora M, Colella Bisogno R, Gaudiano C, Manco G, Lacerra G, Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy., Genes (Basel), 11(8), , 2020

Created on 2018-01-30 18:36:41, Last reviewed on 2021-05-26 10:19:21 (Show full history)

A/A	Date	Curator(s)	Comments
1	2018-01-30 18:36:41	The IthaGenes Curation Team	Created
2	2018-01-30 18:47:58	The IthaGenes Curation Team	Reviewed. Mutation name added.
3	2018-01-31 16:46:38	The IthaGenes Curation Team	Reviewed. Synonym mutation name removed.
4	2020-10-14 10:31:48	The IthaGenes Curation Team	Reviewed. Origin and Reference added.
5	2020-10-15 12:09:12	The IthaGenes Curation Team	Reviewed. Origin corrected.
6	2021-05-26 10:19:21	The IthaGenes Curation Team	Reviewed. Common name corrected.

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