UniProtKB/SwissProt variant VAR

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.

Variant rs33950507 [ dbSNP | Ensembl ]

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.

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68871: Variant p.Glu27Lys