IthaID: 2386


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 13 GCC>ACC [Ala>Thr] HGVS Name: HBA1:c.40G>A
Hb Name: Hb Olivet Protein Info: α1 13(A11) Ala>Thr

Context nucleotide sequence:
TGCCGACAAGACCAACGTCAAGGCC [A/C/G] CCTGGGGTAAGGTCGGCGCGCACGC (Strand: +)

Protein sequence:
MVLSPADKTNVKATWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37619
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:Silent Hb
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: French-Portuguese, Surinamese-Hindustani
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Harteveld CL, Pissard S, Korver AM, Riou J, Legac E, Lansbergen G, Pardijs IL, Giordano PC, Versteegh FG, Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin., Hemoglobin , 40(5), 349-352, 2016
Created on 2014-05-26 11:00:15, Last reviewed on 2017-02-14 10:17:27 (Show full history)

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