IthaID: 2209

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 32 ATG>AGG [Met>Arg]	HGVS Name:	HBA2:c.98T>G
Hb Name:	Hb Rotterdam	Protein Info:	α2 32(B13) Met>Arg
Also known as:	Hb Gran Vía

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
CCTCACTCTGCTTCTCCCCGCAGGA [T>G] GTTCCTGTCCTTCCCCACCACCAAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERRFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: The substitution of the neutral apolar hydrophobic and internal Methionine for the positively charged, external and active binder Arginine, is likely to cause molecular instability.

External Links

HbVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-thalassaemia, α-chain variant
Allele Phenotype:	α⁺
Stability:	Hyperunstable
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	33990
Size:	1 bp
Located at:	α2
Specific Location:	Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL, Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening., Hemoglobin , 34(4), 354-65, 2010
de la Fuente-Gonzalo F, Nieto JM, Velasco D, Cela E, Pérez G, Fernández-Teijeiro A, Escudero A, Villegas A, González-Fernández FA, Ropero P, HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies., Clin. Chem. Lab. Med. , 54(4), 553-60, 2016

Created on 2013-10-02 10:41:38, Last reviewed on 2019-04-05 13:52:02 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-10-02 10:41:38	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2016-08-23 14:31:28	The IthaGenes Curation Team	Reviewed. Update of mutation comment section. Update of protein name. Structural Hb variant phenotype information added.
4	2016-08-24 15:05:22	The IthaGenes Curation Team	Reviewed. Protein info updated and mutated protein sequence added.
5	2016-08-26 09:46:34	The IthaGenes Curation Team	Reviewed.
6	2016-08-26 09:46:59	The IthaGenes Curation Team	Reviewed. Add synonym. Add reference.
7	2019-04-05 13:50:45	The IthaGenes Curation Team	Reviewed. Allele and context sequence added. HbVar link added. Location corrected.
8	2019-04-05 13:52:02	The IthaGenes Curation Team	Reviewed. Strand added.

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