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:
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-H RSLHRHSHGPQFGSEVELRHS
Chimpanzee GIALLVATLGLSQRLFSIR-H RSLHRHSHGPQFDSEVELRH
Mouse GVALLVATVGLAHRLYNIRNH HSLRRPHRGPQFGSEVELRH
Rat GVALLVATVGLAHRLYNIHNH HSLRRPHRGPQFGSEVELRH
Rabbit GVALLLASLGLTQRLFSIR-Y QSLRQPHHGPQFGSEVELRH
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
30 – 1306 Angiotensin-converting enzyme
1233 – 1306 Removed in soluble form
1278 – 1306 Cytoplasmic
1299 – 1299 Phosphoserine
1146 – 1306 Missing. In isoform Somatic-2.
1299 – 1299 S -> A. Abolishes phosphorylation and decreases membrane retention.
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;
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.