
IthaID: 757
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
---|---|---|---|
Common Name: | CD 133 AGC>AGA [Ser>Arg] | HGVS Name: | HBA2:c.402C>A |
Hb Name: | Hb Val de Marne | Protein Info: | α2 133(H16) Ser>Arg |
Also known as: | Hb Footscray |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TGGACAAGTTCCTGGCTTCTGTGAG [C/A] ACCGTGCTGACCTCCAAATACCGTT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVRTVLTSKYR
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | α-chain variant |
Allele Phenotype: | N/A |
Stability: | N/A |
Oxygen Affinity: | Increased Oxygen Affinity |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 34436 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 3 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Chinese, French, Hungarian, Polish |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Wajcman H, Kister J, M'Rad A, Marden MC, Riou J, Galacteros F, Hb Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant with moderate increase in oxygen affinity., Hemoglobin , 17(5), 407-17, 1993
- Owen MC, Hendy JG, Hb Footscray or alpha 133(H16) Ser-->Arg: a new hemoglobin variant., Hemoglobin , 18(1), 19-27, 1994
- Ma ES, Chan AY, Lee AC, Molecular characterization of Hb Val de Marne [alpha133(H16)Ser-->Arg; AGC-->AGA; (alpha2)] in a Chinese family., Hemoglobin , 28(3), 213-6, 2004
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-04-07 12:45:42 (Show full history)
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