UniProtKB/SwissProt variant VAR

Variant information

Variant position:

2045

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 Alanine (A) to Serine (S) at position 2045 (A2045S, p.Ala2045Ser).

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 small size and hydrophobic (A) to small size and polar (S)

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

Other resources:

Links to websites of interest for the variant.

Variant rs4147934 [ dbSNP | Ensembl ]

Sequence information

Variant position:

2045

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

Protein sequence length:

2146

The length of the canonical sequence.

Location on the sequence:

RVPAARSQPAAAFVAAEFPG A ELREAHGGRLRFQLPPGGRC

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                         RVPAA--RSQPAAAFVAAEFPGAELREAHGGRLRFQLPPGGRC

Mouse                         RVPPD--QPEPAIAFIRITFPGAELREVHGSRLRFQLPPGG

Rat                           RVPPD--QPEPAIAFIVTTFPDAELREVHGSRLRFQLPPGG

Slime mold                    DIQEDYQNTHNPTDLIKSFSPSATLSETFNGSYVYRLPKD-

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 – 2146	Phospholipid-transporting ATPase ABCA7

Literature citations

Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7).
Kaminski W.E.; Orso E.; Diederich W.; Klucken J.; Drobnik W.; Schmitz G.;
Biochem. Biophys. Res. Commun. 273:532-538(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLN-1349; ALA-1527 AND SER-2045; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; INDUCTION;

Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjogren's Syndrome.
Tanaka A.R.; Ikeda Y.; Abe-Dohmae S.; Arakawa R.; Sadanami K.; Kidera A.; Nakagawa S.; Nagase T.; Aoki R.; Kioka N.; Amachi T.; Yokoyama S.; Ueda K.;
Biochem. Biophys. Res. Commun. 283:1019-1025(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS GLN-1349; ALA-1527 AND SER-2045;

Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter.
Broccardo C.; Osorio J.; Luciani M.-F.; Schriml L.M.; Prades C.; Shulenin S.; Arnould I.; Naudin L.; Lafargue C.; Rosier M.; Jordan B.; Mattei M.-G.; Dean M.; Denefle P.; Chimini G.;
Cytogenet. Cell Genet. 92:264-270(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLY-188; ALA-1527 AND SER-2045; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE;

Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.
Iida A.; Saito S.; Sekine A.; Mishima C.; Kitamura Y.; Kondo K.; Harigae S.; Osawa S.; Nakamura Y.;
J. Hum. Genet. 47:285-310(2002)
Cited for: VARIANTS GLY-188; ALA-319; ARG-395; HIS-463; THR-718; GLN-1349; ARG-1686 AND SER-2045;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IZY2: Variant p.Ala2045Ser