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UniProtKB/Swiss-Prot P11413: Variant p.Ser184Phe

Glucose-6-phosphate 1-dehydrogenase
Gene: G6PD
Variant information

Variant position:  184
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Serine (S) to Phenylalanine (F) at position 184 (S184F, p.Ser184Phe).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and polar (S) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism:  The sequence shown is that of variant B, the most common variant.
Additional information on the polymorphism described.

Variant description:  In Dindori; class II; 5% of activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  184
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  515
The length of the canonical sequence.

The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

Chain 2 – 515 Glucose-6-phosphate 1-dehydrogenase
Binding site 171 – 171 NADP 1; via carbonyl oxygen
Binding site 171 – 171 Substrate
Modified residue 171 – 171 N6-acetyllysine
Mutagenesis 171 – 171 K -> Q. Inhibits catalytic activity. Does not impair dimerization.
Mutagenesis 171 – 171 K -> R. Inhibits catalytic activity. Does not impair dimerization.
Helix 177 – 188

Literature citations

Identification of a novel S184F mutation causing glucose-6-phosphate-dehydrogenase deficiency in a tribal family of Madhya Pradesh, Central India.
Devendra R.; Shanmugam R.; Singh M.P.S.S.; Vishwakarma C.P.; Godbhole S.; Singh N.; Gupta V.; Kedar P.; Mukherjee M.B.;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.