IthaID: 3917
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 67 GTG>ATG [Val>Met] | HGVS Name: | HBG1:c.202G>A |
| Hb Name: | Hb Toms River | Protein Info: | Αγ 67(E11) Val>Met |
Context nucleotide sequence:
AAAGTCAAGGCACATGGCAAGAAG [G/A] TGCTGACTTCCTTGGGAGATGCCA (Strand: -)
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKMLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH
Also known as:
Comments: Found in a newborn girl with persistent SpO2 of 83-90%. The Hb variant can mimic cyanotic congenital heart disease.
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: | 48135 |
| Size: | 1 bp |
| Located at: | Aγ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Abecasis F, Marques I, Bento C, Ferrão A, A novel haemoglobin variant mimicking cyanotic congenital heart disease., BMJ Case Rep, 2016(0), 0, 2016
Created on 2022-04-19 09:34:09,
Last reviewed on 2022-04-19 09:35:57 (Show full history)
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