UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1286

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 Arginine (R) to Serine (S) at position 1286 (R1286S, p.Arg1286Ser).

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 (R) 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 rs4364 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1286

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

Protein sequence length:

1306

The length of the canonical sequence.

Location on the sequence:

GIALLVATLGLSQRLFSIRH R SLHRHSHGPQFGSEVELRHS

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                         GIALLVATLGLSQRLFSIR-HRSLHRHSHGPQFGSEVELRHS

Chimpanzee                    GIALLVATLGLSQRLFSIR-HRSLHRHSHGPQFDSEVELRH

Mouse                         GVALLVATVGLAHRLYNIRNHHSLRRPHRGPQFGSEVELRH

Rat                           GVALLVATVGLAHRLYNIHNHHSLRRPHRGPQFGSEVELRH

Rabbit                        GVALLLASLGLTQRLFSIR-YQSLRQPHHGPQFGSEVELRH

Drosophila                    -----------------------------------------

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	30 – 1306	Angiotensin-converting enzyme
Propeptide	1233 – 1306	Removed in soluble form
Topological domain	1278 – 1306	Cytoplasmic
Modified residue	1299 – 1299	Phosphoserine
Alternative sequence	1146 – 1306	Missing. In isoform Somatic-2.
Mutagenesis	1299 – 1299	S -> A. Abolishes phosphorylation and decreases membrane retention.

Literature citations

Sequence variation in the human angiotensin converting enzyme.
Rieder M.J.; Taylor S.L.; Clark A.G.; Nickerson D.A.;
Nat. Genet. 22:59-62(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-261; TRP-561 AND SER-1286;

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANTS THR-1018; VAL-1051; GLN-1279; SER-1286 AND PRO-1296;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12821: Variant p.Arg1286Ser