IthaID: 421

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 142 (TAA>GAA) >172aa	HGVS Name:	HBA2:c.427T>G
Hb Name:	Hb Seal Rock	Protein Info:	α2 142, Stop>Glu; modified C-terminal sequence: (142)Glu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(172)Glu-COOH

Context nucleotide sequence:
CACCGTGCTGACCTCCAAATACCGT [A/C/G/T] AAGCTGGAGCCTCGGTAGCCGTTCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYRE

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-thalassaemia, α-chain variant
Allele Phenotype:	α⁺
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34461
Size:	1 bp
Located at:	α2
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	African
Molecular mechanism:	Elongated globin
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
376	Hb Seal Rock	α2	D-10	Dual Kit Program	1.5	4.59	Heterozygous. Modified C-terminal sequence.	[PDF]
377	Hb Seal Rock	α2	VARIANT	β-thal Short Program	1.9	4.7	Heterozygous. Modified C-terminal sequence.	[PDF]
378	Hb Seal Rock	α2	VARIANT II	β-thal Short Program	0.9	4.77	Heterozygous. Modified C-terminal sequence.	[PDF]
379	Hb Seal Rock	α2	VARIANT II	Dual Kit Program	0.7	4.104	Heterozygous. Modified C-terminal sequence.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

Merritt D, Jones RT, Head C, Thibodeau SN, Fairbanks VF, Steinberg MH, Coleman MB, Rodgers GP, Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb)., Hemoglobin , 21(4), 331-44, 1997 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.

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