IthaID: 1433



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 63 CAT>TAT HGVS Name: HBG2:c.190C>T
Hb Name: Hb F-M-Osaka Protein Info: Gγ 63(E7) His>Tyr

Context nucleotide sequence:
CATGGGCAACCCCAAAGTCAAGGCA [C/T] ATGGCAAGAAGGTGCTGACTTCCTT (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAYGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43199
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Glader BE, Zwerdling D, Kutlar F, Kutlar A, Wilson JB, Huisman TH, Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant., Hemoglobin, 13(7), 769-73, 1989 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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