IthaID: 2556


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 113 GTT>ATT [Val>Ile] HGVS Name: HBG1:c.340G>A
Hb Name: Hb F-Sykesville MD Protein Info: Aγ 113(G15) Val>Ile

Context nucleotide sequence:
GCTCCTGGGAAATGTGCTGGTGACC [G/A] TTTTGGCAATCCATTTCGGCAAAGA (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTILAIHFGKEFTPEVQASWQKMVTAVASALSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 49153
Size: 1 bp
Located at:
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Patel N, Fixler J, Unguru Y, Kutlar A, Kutlar F, A new Aγ-globin chain variant: Hb F-Sykesville MD [Aγ113(G15)Val → Ile; HBG1: c.340G>A] detected in a Caucasian baby., Hemoglobin , 39(1), 52-4, 2015
Created on 2015-06-16 17:16:45, Last reviewed on 2019-04-08 11:27:35 (Show full history)

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