IthaID: 396

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 104 TGC>TAC [Cys>Tyr] HGVS Name: HBA2:c.314G>A
Hb Name: Hb Sallanches Protein Info: α2 104(G11) Cys>Tyr

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34348
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Morlé F, Francina A, Ducrocq R, Wajcman H, Gonnet C, Philippe N, Souillet G, Godet J, A new alpha chain variant Hb Sallanches [alpha 2 104(G11) Cys-->Tyr] associated with HbH disease in one homozygous patient., British journal of haematology, 91(3), 608-11, 1995 PubMed
  2. Khan SN, Butt FI, Riazuddin S, Galanello R, Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family., Hemoglobin , 24(1), 31-5, 2000 PubMed
  3. Nadkarni AH, Gorakshakar AC, Sawant PM, Italia KY, Upadhye DS, Gorivale MS, Mehta PR, Hariharan P, Ghosh K, Colah RB, The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center., Int J Lab Hematol, 41(2), 218-226, 2019 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-11-04 11:17:26 (Show full history)

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