IthaID: 682

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 95 CCG>TCG [Pro>Ser]	HGVS Name:	NM_000517.4(HBA2):c.286C>T
Hb Name:	Hb Rampa	Protein Info:	α2 95(G2) Pro>Ser

Context nucleotide sequence:
GCACGCGCACAAGCTTCGGGTGGAC [C/T] CGGTCAACTTCAAGGTGAGCGGCGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDSVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	ClinVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-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:	16
Locus:	NG_000006.1
Locus Location:	34178
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:	Indian, North European
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

de Jong WW, Bernini LF, Meera Khan P, Haemoglobin Rampa: Alpha 95 Pro--Ser., Biochim. Biophys. Acta , 236(1), 197-200, 1971
Hoyer JD, Rachut E, Kubik KS, Jones RT, Honig GR, Vida LN, Fairbank VF, Hb Rampa [alpha 95(G2)pro-->Ser (alpha 2)] in a family of European ancestry: DNA analysis confirms the CCG-->TCG mutation at codon 95 of the alpha 2-globin gene; clinical and laboratory features., Hemoglobin, 26(4), 397-403, 2002

Created on 2010-06-16 16:13:16, Last reviewed on 2024-04-12 10:21:55 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-14 14:41:14	The IthaGenes Curation Team	Reviewed. Added reference, allele phenotype, ClinVar link and common name
4	2021-04-07 12:19:41	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected. Reference added.
5	2024-04-12 10:21:55	The IthaGenes Curation Team	Reviewed. HGVS name and Links corrected.

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