IthaID: 3608
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 50 (TCT>TGT);CD 75(ATA>ACA) | HGVS Name: | HBG2:c.[152C>G;227T>C] |
| Hb Name: | Hb F-Madrid | Protein Info: | Gγ 50(D1) Ser>Cys;Gγ 75(E19) Ile>Thr |
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSCASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
Also known as:
Comments: The structural hemoglobin variant of Gγ with two amino acid replacements in cis found in the umbilical cord blood of a neonate in Madrid. The neonate born after a normal 40-week gestation and the main abnormal feature was a decreased MCV of 76 fl, at 1.5 years old. The neonate also carried the –α3.7 deletion.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | γ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 43161 |
| Size: | 1 bp |
| Located at: | Gγ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Hojas R, Villegas A, Ropero P, Valverde F, Nogales A, González FA, José C, Villar L, García C, Two new mutations in cis on (G)gamma chain of fetal hemoglobin: Hb F-Madrid [G gamma 50(D1)Ser-->Cys] and [G gamma 75(E19)Ile-->Thr]., Ann. Hematol., 82(3), 181-3, 2003
Created on 2020-08-07 14:14:11,
Last reviewed on (Show full history)
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