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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSCASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
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.
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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