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UniProtKB/Swiss-Prot P02730: Variant p.Leu687Pro

Band 3 anion transport protein
Gene: SLC4A1
Variant information

Variant position:  687
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 Leucine (L) to Proline (P) at position 687 (L687P, p.Leu687Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 CHC; Blackburn; induces abnormal cations sodium and potassium fluxes; decreases anion chloride transport.
Any additional useful information about the variant.

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



Sequence information

Variant position:  687
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:   SALPALLVFILIFLESQITT  L IVSKPERKMVKGSGFHLDLL
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                         SALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLL

Mouse                         SVLPALLVFILIFLESQITTLIVSKPERKMIKGSGFHLDLL

Rat                           SVLPALLVFILIFLESQITTLIVSKPERKMIKGSGFHLDLL

Chicken                       SPVPALLVFILIFLETQITTLIVSKPERKLVKGSGFHLDLL

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 685 – 700 Cytoplasmic
Site 681 – 681 Important for anion-proton cotransport
Mutagenesis 681 – 681 E -> Q. Impairs expression at the cell membrane.
Helix 668 – 689


Literature citations

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.