IthaID: 712
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 113 CTC>CAC [Leu>His] | HGVS Name: | HBA1:c.341T>A | HBA2:c.341T>A |
| Hb Name: | Hb Twin Peaks | Protein Info: | α2 or α1 113(GH1) Leu>His |
Context nucleotide sequence:
CTGCTGGTGACCCTGGCCGCCCACC [A/G/T] CCCCGCCGAGTTCACCCCTGCGGTG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHHPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34375 or 38186 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Irish, Mexican |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Guis M, Mentzer WC, Jue DL, Johnson MH, McGuffey JE, Moo-Pen WF, Hemoglobin Twin Peaks alpha 113 (GH1) Leu----His., Hemoglobin , 9(2), 175-7, 1985
- Sivaram MV, Sudha R, Roy RP, A role for the alpha 113 (GH1) amino acid residue in the polymerization of sickle hemoglobin. Evaluation of its inhibitory strength and interaction linkage with two fiber contact sites (alpha 16/23) located in the AB region of the alpha-chain., J. Biol. Chem. , 276(21), 18209-15, 2001
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 17:04:48 (Show full history)
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