Sequence information
Variant position: 1228 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:
LRTENELHGEKLGWPQYNWT
P NSARSEGPLPDSGRVSFLGL
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 LRTENELHGEKLGWPQYNWTP NSARSEGPLPDSGRVSFLGL
Chimpanzee LRTENELHGEKLGWPQYNWTP NSARSEGPLPDSGRVSFLGL
Mouse LVTENRRHGETLGWPEYNWAP NTARAEGSTAESNRVNFLGL
Rat LVTENRRHGETLGWPEYTWTP NTARAEGSLPESSRVNFLGM
Rabbit LLTENGRHGEKLGWPQYTWTP NSARSEGSLPDSGRVNFLGM
Drosophila LEAENIKNNVHIGWTTSNKCV SS------------------
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
631 – 1232
Peptidase M2 2
Site
1225 – 1225
Not glycosylated
Alternative sequence
1146 – 1306
Missing. In isoform Somatic-2.
Literature citations
Increased shedding of angiotensin-converting enzyme by a mutation identified in the stalk region.
Eyries M.; Michaud A.; Deinum J.; Agrapart M.; Chomilier J.; Kramers C.; Soubrier F.;
J. Biol. Chem. 276:5525-5532(2001)
Cited for: BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANT LEU-1228;
Point mutation in the stalk of angiotensin-converting enzyme causes a dramatic increase in serum angiotensin-converting enzyme but no cardiovascular disease.
Kramers C.; Danilov S.M.; Deinum J.; Balyasnikova I.V.; Scharenborg N.; Looman M.; Boomsma F.; de Keijzer M.H.; van Duijn C.; Martin S.; Soubrier F.; Adema G.J.;
Circulation 104:1236-1240(2001)
Cited for: VARIANT LEU-1228; ASSOCIATION WITH BENIGN SERUM INCREASE OF ANGIOTENSIN-CONVERTING ENZYME;
Hereditary elevation of angiotensin converting enzyme suggesting neurosarcoidosis.
Linnebank M.; Kesper K.; Jeub M.; Urbach H.; Wuellner U.; Klockgether T.; Schmidt S.;
Neurology 61:1819-1820(2003)
Cited for: VARIANT LEU-1228; ASSOCIATION WITH BENIGN SERUM INCREASE OF ANGIOTENSIN-CONVERTING ENZYME;
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.