IthaID: 2297

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 142 GCC>GTC (Ala>Val)	HGVS Name:	HBB:c.428C>T
Hb Name:	Hb Waterland	Protein Info:	β 142 Ala>Val

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALVHKYH

Also known as:

Comments: Found as a heterozygote with an alpha-thal 3.7 kb (type I) deletion. Patient was slightly microcytic but not anaemic. Mutation resulted in elevated oxygen affinity, while variant stability was normal with the heat test. Hb Waterland related to mild polycythemia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	72002
Size:	1 bp
Located at:	β
Specific Location:	Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

van Zwieten R, Veldthuis M, Delzenne B, Berghuis J, Groen J, Ait Ichou F, Clifford E, Harteveld CL, Stroobants AK, Hemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones., Hemoglobin , 2013

Created on 2014-01-08 12:29:03, Last reviewed on 2016-08-25 09:50:37 (Show full history)

A/A	Date	Curator(s)	Comments
1	2014-01-08 12:29:03	The IthaGenes Curation Team	Created
2	2014-01-08 13:06:04	The IthaGenes Curation Team	Reviewed.
3	2016-08-23 18:11:54	The IthaGenes Curation Team	Reviewed. Update of mutation comment section. Protein info updated. HbVar ID added.
4	2016-08-23 18:13:23	The IthaGenes Curation Team	Reviewed.
5	2016-08-25 09:50:37	The IthaGenes Curation Team	Reviewed.

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