IthaID: 548


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 49 AGC>AGA or AGG [Ser>Arg] HGVS Name: HBA2:c.150C>A |HBA2:c.150C>G
Hb Name: Hb Savaria Protein Info: α2 49(CE7) Ser>Arg

Context nucleotide sequence:
CCTACTTCCCGCACTTCGACCTGAG [A/C/G] CACGGCTCTGCCCAGGTTAAGGGCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLRHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34042
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: American, Hungarian, Kenyan, Yugoslavian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Szelényi JG, Horányi M, Földi J, Hudacsek J, István L, Hollán SR, A new hemoblogin variant in hungary: Hb Savaria - alpha 49 (CE7) Ser replace by Arg., Hemoglobin , 4(1), 27-38, 1980
  2. Juricić D, Efremov GD, Wilson JB, Huisman TH, Hb Savaria or alpha(2)49(CE7)Ser----Arg beta 2 in a Yugoslavian family., Hemoglobin , 9(6), 631-3, 1985
  3. Zhang H, Li C, Li J, Hou S, Chen D, Yan H, Chen S, Liu S, Yin Z, Yang X, Tan J, Huang X, Zhang L, Fang J, Zhang C, Li W, Guo J, Lei D, Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China., J Clin Lab Anal, 33(4), e22845, 2019
Created on 2010-06-16 16:13:15, Last reviewed on 2021-01-30 12:37:13 (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.