IthaID: 586


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 64 GAC>TAC [Asp>Tyr] HGVS Name: HBA1:c.193G>T | HBA2:c.193G>T
Hb Name: Hb Persepolis Protein Info: α2 or α1 64(E13) Asp>Tyr

Context nucleotide sequence:
TAAGGGCCACGGCAAGAAGGTGGCC [A/G/T] ACGCGCTGACCAACGCCGTGGCGCA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVAYALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 34085 or 37889
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Indian Sikh
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Rahbar S, Ala F, Akhavan E, Nowzari G, Shoa'i I, Zamanianpoor MH, Two new haemoglobins: haemoglobin Perspolis (alpha 64 (E13) Asp leads to Tyr) and haemoglobin J-Kurosh (alpha 19 (AB) Ala leads to Asp)., Biochim. Biophys. Acta , 427(1), 119-25, 1976
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-09 18:21:10 (Show full history)

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