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:
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 EEKSAVTALWGKVNVDEVGG EALGRLLVVYPWTQRFFESFG
Gorilla EEKSAVTALWGKVNVDEVGG EALGRLLVVYPWTQRFFESFG
Rhesus macaque EEKNAVTTLWGKVNVDEVGG EALGRLLLVYPWTQRFFESFG
Chimpanzee EEKSAVTALWGKVNVDEVGG EALGRLLVVYPWTQRFFESFG
Pig EEKEAVLGLWGKVNVDEVGG EALGRLLVVYPWTQRFFESFG
Bovine EEKAAVTAFWGKVKVDEVGG EALGRLLVVYPWTQRFFESFG
Rabbit EEKSAVTALWGKVNVEEVGG EALGRLLVVYPWTQRFFESFG
Sheep EEKAAVTGFWGKVKVDEVGA EALGRLLVVYPWTQRFFEHFG
Cat EEKGLVNGLWGKVNVDEVGG EALGRLLVVYPWTQRFFESFG
Horse EEKAAVLALWDKVNEEEVGG EALGRLLVVYPWTQRFFDSFG
Chicken EEKQLITGLWGKVNVAECGA EALARLLIVYPWTQRFFASFG
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
2 – 147 Hemoglobin subunit beta
26 – 27 (Microbial infection) Cleavage; by N.americanus apr-2
10 – 10 Phosphoserine
13 – 13 Phosphothreonine
45 – 45 Phosphoserine
9 – 9 N-linked (Glc) (glycation) lysine
18 – 18 N-linked (Glc) (glycation) lysine
21 – 35
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.;
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.;
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.;
Cited for: VARIANT B-THAL LYS-27;
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.