IthaID: 3369
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 63 CAT>CTT [His>Leu] | HGVS Name: | HBG2:c.191A>T |
| Hb Name: | Hb F-Circleville | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CATGGGCAACCCCAAAGTCAAGGCAC [A/T] TGGCAAGAAGGTGCTGACTTCCTT (Strand: -)
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKALGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
Comments: Found in a heterozygous state. Presented with cyanosis at birth. Although Hb-F Circleville occurs due to a leucine replacement at residue 63, where the distal histidine is located, and causes clinical symptoms that are similar to Hb F-M Osaka [IthaID: 1433], it will be necessary to measure methemoglobin to name this variant an new M Hb.
External 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: | 43200 |
| Size: | 1 bp |
| Located at: | Gγ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | American |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Dainer E, Shell R, Miller R, Atkin JF, Pastore M, Kutlar A, Zhuang L, Holley L, Davis DH, Kutlar F, Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]., Hemoglobin, 32(6), 596-600, 2008