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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68871: Variant p.His144Pro

Hemoglobin subunit beta
Gene: HBB
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Variant information Variant position: help 144
Type of variant: help LB/B
Residue change: help From Histidine (H) to Proline (P) at position 144 (H144P, p.His144Pro).
Physico-chemical properties: help Change from medium size and polar (H) to medium size and hydrophobic (P)
BLOSUM score: help -2
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 Syracuse; O(2) affinity up.
Other resources: help


Sequence information Variant position: help 144
Protein sequence length: help 147
Location on the sequence: help TPPVQAAYQKVVAGVANALA H KYH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 147 Hemoglobin subunit beta
Domain 3 – 147 Globin
Binding site 144 – 144
Modified residue 145 – 145 N6-acetyllysine; alternate
Glycosylation 145 – 145 N-linked (Glc) (glycation) lysine; alternate
Helix 144 – 146



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.