IthaID: 1285


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 141 CTG>GTG; CD 144 AAG>TAG HGVS Name: HBB:c.[424C>G;433A>T]
Hb Name: Hb Kochi Protein Info: β 141(H19) Leu>Val AND β 144(HC1) Lys-Tyr-His->0

Context nucleotide sequence:
TGGTGTGGCTAATGCCCTGGCCCAC [A/G/T] AGTATCACTAAGCTCGCTTTCTTGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANAVAHKYH

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71998
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Miyazaki A, Nakanishi T, Shimizu A, Mizobuchi M, Yamada Y, Imai K, Hb KOCHI [beta141(H19)Leu-->Val (g.1404 C-->G); 144-->146(HC1-3)Lys-Tyr-His-->0 (g.1413 A-->T)]: a new variant with increased oxygen affinity., Hemoglobin, 29(1), 1-10, 2005
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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