UniProtKB/Swiss-Prot P12821: Variant p.Val524Ala

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

524 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 Valine (V) to Alanine (A) at position 524 (V524A, p.Val524Ala). 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 medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs12720746 [ dbSNP | Ensembl ]

Sequence information Variant position:

524 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:

PPVTRNETHFDAGAKFHVPN V TPYIRYFVSFVLQFQFHEAL 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                         PPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQFHEAL

Chimpanzee                    PPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQFHEAL

Mouse                         PPVARNETHFDAGAKFHIPNVTPYIRYFVSFVLQFQFHQAL

Rat                           PPVARNETHFDAGAKFHIPSVTPYIRYFVSFVLQFQFHQAL

Pig                           PPVVRNETHFDAGAKYHVPNVTPYIRYFVSFILQFQFHQAL

Bovine                        PPVVRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQFHEAL

Rabbit                        PPVVRNETHFDAGAKFHIPSVTPYIRYFVSFVLQFQFHQAL

Chicken                       APVSRNESNFDPGAKYHIPGNTPYIRYFVSFILQFQFHKAL

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
Active site	520 – 520	Proton donor 1
Binding site	529 – 529
Site	523 – 523	Not glycosylated
Glycosylation	509 – 509	N-linked (GlcNAc...) asparagine
Alternative sequence	1 – 641	MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAASWAHDTNITAENARRQEEAALLSQEFAEAWGQKAKELYEPIWQNFTDPQLRRIIGAVRTLGSANLPLAKRQQYNALLSNMSRIYSTAKVCLPNKTATCWSLDPDLTNILASSRSYAMLLFAWEGWHNAAGIPLKPLYEDFTALSNEAYKQDGFTDTGAYWRSWYNSPTFEDDLEHLYQQLEPLYLNLHAFVRRALHRRYGDRYINLRGPIPAHLLGDMWAQSWENIYDMVVPFPDKPNLDVTSTMLQQGWNATHMFRVAEEFFTSLELSPMPPEFWEGSMLEKPADGREVVCHASAWDFYNRKDFRIKQCTRVTMDQLSTVHHEMGHIQYYLQYKDLPVSLRRGANPGFHEAIGDVLALSVSTPEHLHKIGLLDRVTNDTESDINYLLKMALEKIAFLPFGYLVDQWRWGVFSGRTPPSRYNFDWWYLRTKYQGICPPVTRNETHFDAGAKFHVPNVTPYIRYFVSFVLQFQFHEALCKEAGYEGPLHQCDIYRSTKAGAKLRKVLQAGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID -> MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN. In isoform 4.
Alternative sequence	1 – 574	Missing. In isoform Testis-specific.
Mutagenesis	509 – 509	N -> D. In Ndom123456 mutant; abolished dipeptidyl carboxypeptidase activity; when associated with D-318 and D-445.
Mutagenesis	529 – 529	R -> Q. Abolished dependence to chloride, leading to reduced peptidyl dipeptidase activity.
Turn	519 – 524

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.