IthaID: 1409
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 7 GAC>AAC | HGVS Name: | HBG2:c.22G>A |
| Hb Name: | Hb F-Auckland | Protein Info: | Gγ 7(A4) Asp>Asn |
Context nucleotide sequence:
CGCCATGGGTCATTTCACAGAGGAG [A/G] ACAAGGCTACTATCACAAGCCTGTG (Strand: -)
Protein sequence:
MGHFTEENKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 42909 |
| Size: | 1 bp |
| Located at: | Gγ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | USA, New Zealand |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Carrell RW, Owen MC, Anderson R, Berry E, Haemoglobin F auckland G gamma 7 Asp leads to Asn: further evidence for multiple genes for the gamma chain., Biochimica et biophysica acta, 365(2), 323-7, 1974
- Chen SS, Wilson JB, Webber BB, Kutlar A, Huisman TH, Hb F-Auckland [alpha 2G gamma 2(7)(A4)Asp----Asn] observed in a Caucasian newborn from Alabama., Hemoglobin, 9(5), 531-3, 1985
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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