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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 17:04:48 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-04-14 17:04:48 | The IthaGenes Curation Team | Reviewed. Added common name, references and ClinVar link. |
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IthaGenes was last updated on 2024-09-28 12:00:32