IthaID: 1469
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 36 CCA>CGA | HGVS Name: | HBG1:c.110C>G |
| Hb Name: | Hb F-Pendergrass | Protein Info: | Aγ 36(C2) Pro>Arg |
Context nucleotide sequence:
TCTCACAGGCTCCTGGTTGTCTACC [C/G] ATGGACCCAGAGGTTCTTTGACAGC (Strand: -)
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYRWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH
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: | 48043 |
| Size: | 1 bp |
| Located at: | Aγ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Chen SS, Wilson JB, Huisman TH, Hb F-Pendergrass, an A gamma I variant with a Pro----Arg substitution at position gamma 36(C2)., Hemoglobin, 9(1), 73-7, 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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