Variant position: 354 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 ELSPMPPEFWEGSMLEKPAD GREVVCHASAWDFYNRKDFRI
Chimpanzee ELSPMPPEFWEGSMLEKPAD GREVVCHASAWDFYNRKDFRI
Mouse GLSPMPPEFWAESMLEKPTD GREVVCHASAWDFYNRKDFRI
Rat GLSPMPPEFWAESMLEKPAD GREVVCHASAWDFYNRKDFRI
Rabbit GLLPMPPEFWAESMLEKPED GREVVCHASAWDFYNRKDFRI
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
30 – 1232 Angiotensin-converting enzyme, soluble form
30 – 1256 Extracellular
30 – 630 Peptidase M2 1
1 – 574 Missing. In isoform Testis-specific.
68 – 642 Missing. In isoform 4.
352 – 354
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Gribouval O.; Gonzales M.; Neuhaus T.; Aziza J.; Bieth E.; Laurent N.; Bouton J.M.; Feuillet F.; Makni S.; Ben Amar H.; Laube G.; Delezoide A.-L.; Bouvier R.; Dijoud F.; Ollagnon-Roman E.; Roume J.; Joubert M.; Antignac C.; Gubler M.-C.;
Nat. Genet. 37:964-968(2005)
Cited for: INVOLVEMENT IN RTD; VARIANT ARG-354;
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.