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UniProtKB/Swiss-Prot P02730: Variant p.Lys56Glu

Band 3 anion transport protein
Gene: SLC4A1
Variant information

Variant position:  56
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Lysine (K) to Glutamate (E) at position 56 (K56E, p.Lys56Glu).
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 large size and basic (K) to medium size and acidic (E)
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

Polymorphism:  SLC4A1 is responsible for the Diego blood group system [MIM:110500]. The molecular basis of the Di(a)=Di1/Di(b)/Di2 blood group antigens is a single variation in position 854; Leu-854 corresponds to Di(a) and Pro-854 to Di(b). The molecular basis of the Wr(a)=Di3/Wr(b)/Di4 blood group antigens is a single variation in position 658; Lys-658 corresponds to Wr(a) and Glu-658 to Wr(b). The blood group antigens Wd(a)=Di5 (Waldner-type) has Met-557; Rb(a)=Di6 has Leu-548 and WARR=Di7 has Ile-552.SLC4A1 is responsible for the Swann blood group system (SW) [MIM:601550]. Sw(a+) has a Gln or a Trp at position 646 and Sw(a-) has an Arg. - SLC4A1 is responsible for the Froese blood group system (FR) [MIM:601551]. FR(a+) has a Lys at position 480 and FR(a-) has a Glu. - Genetic variations in SLC4A1 are involved in resistance to malaria [MIM:611162]. -
Additional information on the polymorphism described.

Variant description:  In Di(a)/Memphis-II antigen.
Any additional useful information about the variant.

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



Sequence information

Variant position:  56
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  911
The length of the canonical sequence.

Location on the sequence:   AHDTEATATDYHTTSHPGTH  K VYVELQELVMDEKNQELRWM
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                         AHDTEATATDY----HTTSHPGTHKVYVELQELVMDEKNQELRWM

Mouse                         ALPTEQTATDYVPSSTSTPHPSSGQVYVELQELMMDQRNQE

Rat                           ALPTEQTATDYIPTSTSTSHPSSSQVYVELQELMMDQRNQE

Chicken                       VSDVDLEAAGS---RQPTAHRDTYEGYVELHELVLDSRKDP

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 1 – 911 Band 3 anion transport protein
Topological domain 1 – 403 Cytoplasmic
Region 55 – 290 Globular
Modified residue 46 – 46 Phosphotyrosine
Alternative sequence 1 – 65 Missing. In isoform 2.


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-38; GLU-56; LYS-508 AND ILE-862;

Human erythrocyte band 3 polymorphism (band 3 Memphis): characterization of the structural modification (Lys 56-->Glu) by protein chemistry methods.
Yannoukakos D.; Vasseur C.; Driancourt C.; Blouquit Y.; Delauney J.; Wajcman H.; Bursaux E.;
Blood 78:1117-1120(1991)
Cited for: VARIANT MEMPHIS GLU-56;

Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
Jarolim P.; Palek J.; Amato D.; Hassan K.; Sapak P.; Nurse G.T.; Rubin H.L.; Zhai S.; Sahr K.E.; Liu S.-C.;
Proc. Natl. Acad. Sci. U.S.A. 88:11022-11026(1991)
Cited for: VARIANT SAO 400-ALA--ALA-408 DEL; VARIANT MEMPHIS GLU-56;

Band 3 Memphis variant II. Altered stilbene disulfonate binding and the Diego (Dia) blood group antigen are associated with the human erythrocyte band 3 mutation Pro-854-->Leu.
Bruce L.J.; Anstee D.J.; Spring F.A.; Tanner M.J.;
J. Biol. Chem. 269:16155-16158(1994)
Cited for: VARIANTS BLOOD GROUP DI(A)/MEMPHIS-II GLU-56 AND LEU-854;

Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.
Yawata Y.; Kanzaki A.; Yawata A.; Doerfler W.; Oezcan R.; Eber S.W.;
Int. J. Hematol. 71:118-135(2000)
Cited for: VARIANTS SPH4 ARG-130; ARG-455; ARG-714; TRP-760; GLN-760; HIS-808; ARG-837 AND MET-837; VARIANTS ALA-38; GLU-56; ASP-72 AND LEU-854;

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
Bruce L.J.; Robinson H.C.; Guizouarn H.; Borgese F.; Harrison P.; King M.-J.; Goede J.S.; Coles S.E.; Gore D.M.; Lutz H.U.; Ficarella R.; Layton D.M.; Iolascon A.; Ellory J.C.; Stewart G.W.;
Nat. Genet. 37:1258-1263(2005)
Cited for: INVOLVEMENT IN CHC AND SPH4; VARIANT GLU-56; VARIANTS CHC PRO-687; PRO-731 AND ARG-734; VARIANTS SPH4 TYR-705 AND GLN-760; CHARACTERIZATION OF VARIANTS CHC PRO-687; PRO-731 AND ARG-734; CHARACTERIZATION OF VARIANTS SPH4 TYR-705 AND GLN-760;

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.