Sequence information
Variant position: 561 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:
HEALCKEAGYEGPLHQCDIY
R STKAGAKLRKVLQAGSSRPW
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 HEALCKEAGYEGPLHQCDIYR STKAGAKLRKVLQAGSSRPW
Chimpanzee HEALCKEAGYEGPLHQCDIYQ STKAGAKLRKVLQAGSSRPW
Mouse HQALCKEAGHQGPLHQCDIYQ SAQAGAKLKQVLQAGCSRPW
Rat HQALCKEAGHQGPLHQCDIYQ STKAGAKLQQVLQAGCSRPW
Rabbit HQALCMEAGHQGPLHQCDIYQ STRAGAKLRAVLQAGCSRPW
Drosophila ----------------CD--- --------------------
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
Chain
30 – 1232
Angiotensin-converting enzyme, soluble form
Topological domain
30 – 1256
Extracellular
Region
30 – 630
Peptidase M2 1
Alternative sequence
1 – 641
MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSRSYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGAYWRSWYNSPTFEDDLEHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPFPDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAIGDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFSGRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQFHEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID -> MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN. In isoform 4.
Alternative sequence
1 – 574
Missing. In isoform Testis-specific.
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;
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.