IthaID: 757


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 133 AGC>AGA [Ser>Arg] HGVS Name: HBA2:c.402C>A
Hb Name: Hb Val de Marne Protein Info: α2 133(H16) Ser>Arg

Context nucleotide sequence:
TGGACAAGTTCCTGGCTTCTGTGAG [C/A] ACCGTGCTGACCTCCAAATACCGTT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVRTVLTSKYR

Also known as: Hb Footscray

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34436
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: Chinese, French, Hungarian, Polish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Wajcman H, Kister J, M'Rad A, Marden MC, Riou J, Galacteros F, Hb Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant with moderate increase in oxygen affinity., Hemoglobin , 17(5), 407-17, 1993
  2. Owen MC, Hendy JG, Hb Footscray or alpha 133(H16) Ser-->Arg: a new hemoglobin variant., Hemoglobin , 18(1), 19-27, 1994
  3. Ma ES, Chan AY, Lee AC, Molecular characterization of Hb Val de Marne [alpha133(H16)Ser-->Arg; AGC-->AGA; (alpha2)] in a Chinese family., Hemoglobin , 28(3), 213-6, 2004
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:45:42 (Show full history)

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