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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68871: Variant p.His3Gln

Hemoglobin subunit beta
Gene: HBB
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Variant information Variant position: help 3
Type of variant: help LB/B
Residue change: help From Histidine (H) to Glutamine (Q) at position 3 (H3Q, p.His3Gln).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Polymorphism: help Genetic variations in HBB are involved in resistance to malaria [MIM:611162]. Hemoglobin S (Hb S), which at homozygosity is responsible for sickle cell anemia, is not associated with any clinical abnormality when heterozygous. At heterozygosity, Hb S confers an increase in protection from life-threatening malaria. Additional variants conferring resistance against severe malaria are hemoglobin C (Hb C) and hemoglobin E (Hb E).
Variant description: help In Okayama; O(2) affinity up.
Other resources: help


Sequence information Variant position: help 3
Protein sequence length: help 147
Location on the sequence: help MV H LTPEEKSAVTALWGKVNVDE
Sequence annotation in neighborhood: help
TypePositionsDescription
Initiator methionine 1 – 1 Removed
Chain 2 – 147 Hemoglobin subunit beta
Domain 3 – 147 Globin
Binding site 2 – 2
Binding site 3 – 3
Modified residue 2 – 2 N-acetylvaline
Modified residue 2 – 2 N-pyruvate 2-iminyl-valine; in Hb A1b
Modified residue 10 – 10 Phosphoserine
Modified residue 13 – 13 Phosphothreonine
Glycosylation 2 – 2 N-linked (Glc) (glycation) valine; in Hb A1c
Glycosylation 9 – 9 N-linked (Glc) (glycation) lysine
Glycosylation 18 – 18 N-linked (Glc) (glycation) lysine



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.