IthaID: 926


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 36 CCT>CGT [Pro>Arg] HGVS Name: HBB:c.110C>G
Hb Name: Hb Sunnybrook Protein Info: β 36(C2) Pro>Arg

Context nucleotide sequence:
ACCCTTAGGCTGCTGGTGGTCTACC [A/C/G] TTGGACCCAGAGGTTCTTTGAGTCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYRWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 70834
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Ali MA, Pinkerton P, Chow SW, Zaetz SD, Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Huisman TH, Some rare hemoglobin variants with altered oxygen affinities; Hb linkoping [beta 36(C2)Pro----Thr], Hb Caribbean [beta 91(F7)Leu----Arg], and Hb Sunnybrook [beta 36(C2)Pro----Arg], Hemoglobin, 12(2), 137-48, 1988
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-25 09:12:34 (Show full history)

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