IthaID: 682


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 95 CCG>TCG [Pro>Ser] HGVS Name: HBA2:c.286C>T
Hb Name: Hb Rampa Protein Info: α2 95(G2) Pro>Ser

Context nucleotide sequence:
GCACGCGCACAAGCTTCGGGTGGAC [C/T] CGGTCAACTTCAAGGTGAGCGGCGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDSVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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: 34178
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: Indian, North European
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. de Jong WW, Bernini LF, Meera Khan P, Haemoglobin Rampa: Alpha 95 Pro--Ser., Biochim. Biophys. Acta , 236(1), 197-200, 1971
  2. Hoyer JD, Rachut E, Kubik KS, Jones RT, Honig GR, Vida LN, Fairbank VF, Hb Rampa [alpha 95(G2)pro-->Ser (alpha 2)] in a family of European ancestry: DNA analysis confirms the CCG-->TCG mutation at codon 95 of the alpha 2-globin gene; clinical and laboratory features., Hemoglobin, 26(4), 397-403, 2002
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:19:41 (Show full history)

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