IthaID: 631


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 81 TCC>CCC [Ser>Pro] HGVS Name: HBA2:c.244T>C
Hb Name: Hb Passy Protein Info: α2 81(F2) Ser>Pro

Context nucleotide sequence:
CGTGGACGACATGCCCAACGCGCTG [C/T] CCGCCCTGAGCGACCTGCACGCGCA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALPALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34136
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Turkish
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

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
157Hb Passyα2D-10Dual Kit Program74.71.68Heterozygous. Unstable variant.[PDF]
158Hb Passyα2VARIANTβ-thal Short Program78.12.44Heterozygous. Elutes with HbA. Unstable variant. [PDF]

In silico pathogenicity prediction

Publications / Origin

  1. Lacan P, Moreau M, Becchi M, Zanella-Cleon I, Aubry M, Louis JJ, Couprie N, Francina A, Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)]., Hemoglobin, 29(1), 69-75, 2005
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-10 11:31:43 (Show full history)

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