IthaID: 369


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 35 TCC>CCC [Ser>Pro] HGVS Name: HBA2:c.106T>C
Hb Name: Hb Evora Protein Info: α2 35(B16) Ser>Pro

Context nucleotide sequence:
TGCTTCTCCCCGCAGGATGTTCCTG [C/T] CCTTCCCCACCACCAAGACCTACTT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLPFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33998
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α+/α0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Filipino, Portuguese
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Lorey F, Charoenkwan P, Witkowska HE, Lafferty J, Patterson M, Eng B, Waye JS, Finklestein JZ, Chui DH, Hb H hydrops foetalis syndrome: a case report and review of literature., British journal of haematology, 115(1), 72-8, 2001
  2. Gomes S, Picanço I, Miranda A, Seixas MT, Oliveira M, Romão L, Faustino P, Hb Evora [alpha2-35 (B16), Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype., Haematologica , 92(2), 252-3, 2007
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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