UniProtKB/SwissProt variant VAR

Variant information

Variant position:

862

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 Valine (V) to Isoleucine (I) at position 862 (V862I, p.Val862Ile).

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

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.

Other resources:

Links to websites of interest for the variant.

Variant rs5026 [ dbSNP | Ensembl ]

Sequence information

Variant position:

862

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:

ICLAVLWVVKSTPASLALPF V LILTVPLRRVLLPLIFRNVE

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                         ICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVE

Mouse                         ICLAVLWVVKSTPASLALPFVLILTVPLRRLILPLIFRELE

Rat                           ICLAVLWVVKSTPASLALPFVLILTVPLRRLLLPLIFRELE

Chicken                       LVVALLWGVKVSPASLRCPFVLVLTVPLRRLLLPRIFSEIE

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	1 – 911	Band 3 anion transport protein
Intramembrane	839 – 869	Discontinuously helical
Lipidation	843 – 843	S-palmitoyl cysteine
Helix	859 – 873

Literature citations

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

Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.
Stewart A.K.; Shmukler B.E.; Vandorpe D.H.; Rivera A.; Heneghan J.F.; Li X.; Hsu A.; Karpatkin M.; O'Neill A.F.; Bauer D.E.; Heeney M.M.; John K.; Kuypers F.A.; Gallagher P.G.; Lux S.E.; Brugnara C.; Westhoff C.M.; Alper S.L.;
Am. J. Physiol. 301:C1325-C1343(2011)
Cited for: VARIANT ILE-862;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02730: Variant p.Val862Ile