IthaID: 1009



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 63 CAT>TAT HGVS Name: HBB:c.190C>T
Hb Name: Hb M-Saskatoon Protein Info: β 63(E7) His>Tyr

Context nucleotide sequence:
TATGGGCAACCCTAAGGTGAAGGCT [A/C/T] ATGGCAAGAAAGTGCTCGGTGCCTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAYGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Hörlein-Weber, Hb Leipzig, Hb M-Arhus, Hb M-Chicago, Hb M-Emory, Hb M-Erlangen, Hb M-Hamburg, Hb M-Hida, Hb M-Kurume, Hb M-Radom, Hb Novi Sad

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70914
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Worldwide
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
77Hb M-SaskatoonβD-10Dual Kit Program6.94.7Methemoglobinemia and unstable variant. [PDF]
80Hb M-SaskatoonβVARIANT IIDual Kit Program4.44.51Methemoglobinemia and unstable variant.[PDF]
78Hb M-SaskatoonβVARIANTβ-thal Short Program9.34.91Methemoglobinemia and unstable variant.[PDF]
79Hb M-SaskatoonβVARIANT IIβ-thal Short Program11.75Methemoglobinemia and unstable variant.[PDF]

Sequence Viewer

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Publications / Origin

  1. GERALD PS, EFRON ML, Chemical studies of several varieties of Hb M., Proc. Natl. Acad. Sci. U.S.A. , 47(0), 1758-67, 1961 PubMed
  2. JOSEPHSON AM, WEINSTEIN HG, YAKULIS VJ, SINGER L, HELLER P, A new variant of hemoglobin M disease: hemoglobin M-Chicago., J. Lab. Clin. Med. , 59(0), 918-25, 1962 PubMed
  3. HOBOLTH N, HEMOGLOBIN MARHUS. I. CLINICAL FAMILY STUDY., Acta Paediatr Scand , 54(0), 355-62, 1965 PubMed
  4. Betke K, Kleihauer E, Gehring-Müller R, Braunitzer G, Jacobi J, Schmidt I, [HbM Hamburg, a beta chain anomaly: alpha-2-beta-2-63Tyr (equals HbM Saskatoon)]., Klin. Wochenschr. , 44(16), 961-6, 1966 PubMed
  5. Kedar PS, Nadkarni AH, Phanasgoankar S, Madkaikar M, Ghosh K, Gorakshakar AC, Colah RB, Mohanty D, Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family., American journal of hematology, 79(2), 168-70, 2005 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2017-04-10 12:45:53 (Show full history)

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