IthaID: 456


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 9 AAC>AAG or AAA [Asn>Lys] HGVS Name: HBA1:c.30C>G | HBA1:c.30C>A
Hb Name: Hb Delfzicht Protein Info: α1 9(A7) Asn>Lys

Context nucleotide sequence:
TGCTGTCTCCTGCCGACAAGACCAA [C/G/A] GTCAAGGCCGCCTGGGGTAAGGTCG (Strand: +)

Protein sequence:
MVLSPADKTKVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37609
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Harteveld CL, Van Delft P, Plug RJ, Erjavec Z, Wajcman H, Giordano PC, Hb delfzicht [alpha9(A7)Asn-->Lys (alpha1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient., Hemoglobin , 26(2), 181-4, 2002
Created on 2010-06-16 16:13:15, Last reviewed on 2020-11-03 15:33:28 (Show full history)

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