IthaID: 1127



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 97 CAC>AAC HGVS Name: HBB:c.292C>A
Hb Name: Hb Santa Clara Protein Info: β 97(FG4) His>Asn

Context nucleotide sequence:
GAGTGAGCTGCACTGTGACAAGCTG [A/C/T] ACGTGGATCCTGAGAACTTCAGGGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLNVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71016
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Mexican
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
417Hb Santa ClaraβD-10Dual Kit Program45.31.43Heterozygote.[PDF]
420Hb Santa ClaraβVARIANT IIDual Kit Program45.61.522Heterozygote.[PDF]
418Hb Santa ClaraβVARIANTβ-thal Short Program46.71.65Heterozygote.[PDF]
419Hb Santa ClaraβVARIANT IIβ-thal Short Program45.91.66Heterozygote.[PDF]

Sequence Viewer

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Publications / Origin

  1. Hoyer JD, Weinhold J, Mailhot E, Alter D, McCormick DJ, Snow K, Kubik KS, Holmes MW, Fairbanks VF, Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val]., Hemoglobin, 27(4), 235-41, 2003 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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