IthaID: 489


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 24 TAT>CAT [Tyr>His] HGVS Name: HBA1:c.73T>C | HBA2:c.73T>C
Hb Name: Hb Luxembourg Protein Info: α2 or α1 24(B5) Tyr>His

Context nucleotide sequence:
TAAGGTCGGCGCGCACGCTGGCGAG [C/G/T] ATGGTGCGGAGGCCCTGGAGAGGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEHGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33848 or 37652
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Groff P, Galacteros F, Kalmes G, Blouquit Y, Wajcman H, Hb Luxembourg [alpha 24(B5) Tyr----His]: a new unstable variant., Hemoglobin , 13(5), 429-36, 1989
  2. Moo-Penn WF, Hine TK, Johnson MH, Jue DL, Piersma H, Therrell B, Chu A, Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr], Hemoglobin, 15(1), 97-101, 1991
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 09:52:38 (Show full history)

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