IthaID: 3950


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 140 GCC>GAC [Ala>Asp] HGVS Name: HBG2:c.422C>A
Hb Name: Hb F-Wyandotte Protein Info: Gγ 140(H18) Ala>Asp

Context nucleotide sequence:
GCACTGGCCACTCCAGTCACCAT [C/A] CCTGTCCTCCAGATACCACTGAG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASDLSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 44317
Size: 1 bp
Located at:
Specific Location: Exon 3

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

To the best of our knowledge, this is unpublished data.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

Created on 2022-08-03 09:42:04, Last reviewed on (Show full history)

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