IthaID: 695


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 103 CAC>TAC [His>Tyr] HGVS Name: HBA1:c.310C>T
Hb Name: Hb Charolles Protein Info: α1 103(G10) His>Tyr

Context nucleotide sequence:
CCTCTTCTCTGCACAGCTCCTAAGC [C/T] ACTGCCTGCTGGTGACCCTGGCCGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSYCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Discovered in a person of Sardinian origin with microcytosis and hypochromia, which could be explained by the presence of the poly A mutation HBA2:c.*94A>G. Hb Charolles accounted for 11% of the total hemoglobin. While the histidine residue at position α103(G10) is known to be involved in the α1β1 interchain contacts (Hb Contaldo [IthaID: 698]), there is no evidence to suggest that Hb Charolles alters α1β1 interface to yield unstable haemoglobin.

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: 38155
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Sardinian
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Lacan P, Francina A, Souillet G, Aubry M, Couprie N, Dementhon L, Becchi M, Two new alpha chain variants: Hb Boghé [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1]., Hemoglobin , 23(4), 345-52, 1999
  2. Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013
Created on 2010-06-16 16:13:16, Last reviewed on 2019-06-20 13:31:12 (Show full history)

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