IthaID: 2315
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 110 GCC>GTC [Ala>Val] | HGVS Name: | HBA1:c.332C>T |
| Hb Name: | Hb Montluel | Protein Info: | α1 110(G17) Ala>Val |
| Also known as: | Hb White Rose |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AGCCACTGCCTGCTGGTGACCCTGG [C/T] CGCCCACCTCCCCGCCGAGTTCACC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLVAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Found in a 75-year-old French Caucasian male suffering from Waldenstrom disease presented with Hb 10 g/dL, MCV 94 fL, MCH 32.3 pg. HPLC analysis shown normal levels of Hb A2 2.5 %, Hb F 0.5 % and an abnormal peak of 14.5 %. Hb White Rose is the corresponding HBA1 or HBA2 variant (first report).
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: | 38177 |
| 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: | British, French Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Renoux C, Feray C, Joly P, Lacan P, Francina A, Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C]., Hemoglobin, 39(3), 147-51, 2015 PubMed
Created on 2014-01-10 13:59:52,
Last reviewed on 2021-03-16 09:14:36 (Show full history)
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