UniProtKB/Swiss-Prot P12821: Variant p.Gly354Arg

Angiotensin-converting enzyme
Gene: ACE
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Variant information Variant position:

354 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 Glycine (G) to Arginine (R) at position 354 (G354R, p.Gly354Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs56394458 [ dbSNP | Ensembl ]

Sequence information 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:

ELSPMPPEFWEGSMLEKPAD G REVVCHASAWDFYNRKDFRI 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                         ELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRI

Chimpanzee                    ELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRI

Mouse                         GLSPMPPEFWAESMLEKPTDGREVVCHASAWDFYNRKDFRI

Rat                           GLSPMPPEFWAESMLEKPADGREVVCHASAWDFYNRKDFRI

Pig                           GLLPMPPEFWAESMLEKPSDGREVVCHASAWDFYNRKDFRI

Bovine                        GLLPMPPEFWAESMLEKPSDGREVVCHASAWDFYNRKDFRI

Rabbit                        GLLPMPPEFWAESMLEKPEDGREVVCHASAWDFYNRKDFRI

Chicken                       GLLEMPPEFWEKSMLEKPADGREVVCHASAWDFYNRKDFRI

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
Chain	30 – 1232	Angiotensin-converting enzyme, soluble form
Topological domain	30 – 1256	Extracellular
Domain	40 – 624	Peptidase M2 1
Alternative sequence	1 – 641	MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSRSYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGAYWRSWYNSPTFEDDLEHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPFPDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAIGDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFSGRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQFHEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID -> MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN. In isoform 4.
Alternative sequence	1 – 574	Missing. In isoform Testis-specific.
Beta strand	352 – 354

Literature citations
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;

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.