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UniProtKB/Swiss-Prot P68871: Variant p.Glu27Lys

Hemoglobin subunit beta
Gene: HBB
Variant information

Variant position:  27
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Glutamate (E) to Lysine (K) at position 27 (E27K, p.Glu27Lys).
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 medium size and acidic (E) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

Variant description:  In B-THAL; Hb E; confers resistance to severe malaria.
Any additional useful information about the variant.

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



Sequence information

Variant position:  27
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  147
The length of the canonical sequence.

Location on the sequence:   EEKSAVTALWGKVNVDEVGG  E ALGRLLVVYPWTQRFFESFG
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.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         EEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFG

Gorilla                       EEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFG

Rhesus macaque                EEKNAVTTLWGKVNVDEVGGEALGRLLLVYPWTQRFFESFG

Chimpanzee                    EEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFG

Pig                           EEKEAVLGLWGKVNVDEVGGEALGRLLVVYPWTQRFFESFG

Bovine                        EEKAAVTAFWGKVKVDEVGGEALGRLLVVYPWTQRFFESFG

Rabbit                        EEKSAVTALWGKVNVEEVGGEALGRLLVVYPWTQRFFESFG

Sheep                         EEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFG

Cat                           EEKGLVNGLWGKVNVDEVGGEALGRLLVVYPWTQRFFESFG

Horse                         EEKAAVLALWDKVNEEEVGGEALGRLLVVYPWTQRFFDSFG

Chicken                       EEKQLITGLWGKVNVAECGAEALARLLIVYPWTQRFFASFG

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.

TypePositionsDescription
Chain 2 – 147 Hemoglobin subunit beta
Site 26 – 27 (Microbial infection) Cleavage; by N.americanus apr-2
Modified residue 10 – 10 Phosphoserine
Modified residue 13 – 13 Phosphothreonine
Modified residue 45 – 45 Phosphoserine
Glycosylation 9 – 9 N-linked (Glc) (glycation) lysine
Glycosylation 18 – 18 N-linked (Glc) (glycation) lysine
Helix 21 – 35


Literature citations

Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys).
Benz E.J. Jr.; Berman B.W.; Tonkonow B.L.; Coupal E.; Coates T.; Boxer L.A.; Altman A.; Adams J.G. III;
J. Clin. Invest. 68:118-126(1981)
Cited for: INVOLVEMENT IN B-THAL; VARIANT B-THAL LYS-27;

Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria.
Chotivanich K.; Udomsangpetch R.; Pattanapanyasat K.; Chierakul W.; Simpson J.; Looareesuwan S.; White N.;
Blood 100:1172-1176(2002)
Cited for: POLYMORPHISM; ASSOCIATION OF VARIANT B-THAL LYS-27 WITH RESISTANCE TO MALARIA;

Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia.
Sawangareetrakul P.; Svasti S.; Yodsowon B.; Winichagoon P.; Srisomsap C.; Svasti J.; Fucharoen S.;
Hemoglobin 26:191-196(2002)
Cited for: VARIANT PYRGOS ASP-84; VARIANT B-THAL LYS-27;

The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos.
Flatz G.; Sanguansermsri T.; Sengchanh S.; Horst D.; Horst J.;
Hemoglobin 28:197-204(2004)
Cited for: VARIANT B-THAL LYS-27;

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.