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UniProtKB/Swiss-Prot P02730: Variant p.Asp38Ala

Band 3 anion transport protein
Gene: SLC4A1
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Variant information Variant position:

38 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 Aspartate (D) to Alanine (A) at position 38 (D38A, p.Asp38Ala). 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 (D) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs5035 [ dbSNP | Ensembl ]

Sequence information Variant position:

38 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:

QEEYEDPDIPESQMEEPAAH D TEATATDYHTTSHPGTHKVY 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                         QEEYEDPD---IPESQMEEPAAHDTEATATDY----HTTSHPGTHKVY

Mouse                         QIAYRDLT---IPVTEMQDPEALPTEQTATDYVPSSTSTPH

Rat                           QIAYRDLD---IPVTEMQESEALPTEQTATDYIPTSTSTSH

Chicken                       PEGYEDTKGSRTSLGTMSNPLVSDVDLEAAGS---RQPTAH

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
Topological domain	1 – 403	Cytoplasmic
Region	1 – 40	Disordered
Modified residue	21 – 21	Phosphotyrosine
Modified residue	46 – 46	Phosphotyrosine
Alternative sequence	1 – 65	Missing. In isoform 2.

Literature citations
Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations.
Choo K.E.; Nicoli T.K.; Bruce L.J.; Tanner M.J.; Ruiz-Linares A.; Wrong O.M.;
Pediatr. Nephrol. 21:212-217(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ALA-38; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-38; GLU-56; LYS-508 AND ILE-862; Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.
Miraglia del Giudice E.; Vallier A.; Maillet P.; Perrotta S.; Cutillo S.; Iolascon A.; Tanner M.J.; Delaunay J.; Alloisio N.;
Br. J. Haematol. 96:70-76(1997)
Cited for: VARIANT SPH4 ASN-783; VARIANTS ALA-38 AND MET-73; 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;

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.