IthaID: 2315
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
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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 |
Context nucleotide sequence:
AGCCACTGCCTGCTGGTGACCCTGG [C/T] CGCCCACCTCCCCGCCGAGTTCACC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLVAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb White Rose
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).
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: | 38177 |
Size: | 1 bp |
Located at: | α1 |
Specific Location: | Exon 3 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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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
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
- 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)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2014-01-10 13:59:52 | The IthaGenes Curation Team | Created |
2 | 2014-01-10 13:59:52 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-05-23 09:42:58 | The IthaGenes Curation Team | Reviewed. Synonym, comment and additional location and links added. |
4 | 2021-03-16 09:14:36 | The IthaGenes Curation Team | Reviewed. HGVS, Hb and protein name corrected. Comment added. |
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IthaGenes was last updated on 2024-09-28 12:00:32