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 EEKSAVTALWGKVNVDEVGGE ALGRLLVVYPWTQRFFESFG
Gorilla EEKSAVTALWGKVNVDEVGGE ALGRLLVVYPWTQRFFESFG
Rhesus macaque EEKNAVTTLWGKVNVDEVGGE ALGRLLLVYPWTQRFFESFG
Chimpanzee EEKSAVTALWGKVNVDEVGGE ALGRLLVVYPWTQRFFESFG
Pig EEKEAVLGLWGKVNVDEVGGE ALGRLLVVYPWTQRFFESFG
Bovine EEKAAVTAFWGKVKVDEVGGE ALGRLLVVYPWTQRFFESFG
Rabbit EEKSAVTALWGKVNVEEVGGE ALGRLLVVYPWTQRFFESFG
Sheep EEKAAVTGFWGKVKVDEVGAE ALGRLLVVYPWTQRFFEHFG
Cat EEKGLVNGLWGKVNVDEVGGE ALGRLLVVYPWTQRFFESFG
Horse EEKAAVLALWDKVNEEEVGGE ALGRLLVVYPWTQRFFDSFG
Chicken EEKQLITGLWGKVNVAECGAE ALARLLIVYPWTQRFFASFG
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.
Type Positions Description
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:
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