IthaID: 2349


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 144 AAG>ACG [Lys>Thr] HGVS Name: HBD:c.434A>C
Hb Name: Hb A2-San Floro Protein Info: δ 144(HC1) Lys>Thr

Context nucleotide sequence:
GGTGTGGCTAATGCCCTGGCTCACA [A/C] GTACCATTGAGATCCTGGACTGTTT (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-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: 64642
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2014-05-22 12:31:28, Last reviewed on (Show full history)

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