IthaID: 757



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 133 AGC>CGC or AGA [Ser>Arg] HGVS Name: HBA2:p.Ser134Arg | HBA1:p.Ser134Arg
Hb Name: Hb Val de Marne Protein Info: α2 or α1 133(H16) Ser>Arg

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVRTVLTSKYR

Also known as: Hb Footscray

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34434 or 34436 or 38245 or 38247
Size: 1 bp or 1 bp or 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese, French, Hungarian, Polish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 PubMed
  2. Owen MC, Hendy JG, Hb Footscray or alpha 133(H16) Ser-->Arg: a new hemoglobin variant., Hemoglobin , 18(1), 19-27, 1994 PubMed
  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 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 11:55:31 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.