IthaID: 440


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 5 GCC>CCC [Ala>Pro] HGVS Name: HBA1:c.16G>C | HBA2:c.16G>C
Hb Name: Hb Karachi Protein Info: α2 or α1 5(A3) Ala>Pro

Context nucleotide sequence:
AGAACCCACCATGGTGCTGTCTCCT [C/G] CCGACAAGACCAACGTCAAGGCCGC (Strand: +)

Protein sequence:
MVLSPPDKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33791 or 37595
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Pakistani
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Ahmad A, Naqvi S, Ehsanullah S, Zaidi ZH, Abnormal hemoglobins 11-Hb (Karachi), an alpha chain abnormality at position 5 Ala----Pro., J Pak Med Assoc , 36(8), 206-8, 1986
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 15:05:39 (Show full history)

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