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UniProtKB/Swiss-Prot Q96C12: Variant p.Leu754Pro

Armadillo repeat-containing protein 5
Gene: ARMC5
Variant information

Variant position:  754
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Leucine (L) to Proline (P) at position 754 (L754P, p.Leu754Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Variant description:  In AIMAH2; loss of function in promoting apoptosis.
Any additional useful information about the variant.

Sequence information

Variant position:  754
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  935
The length of the canonical 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.




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.

Chain 1 – 935 Armadillo repeat-containing protein 5
Domain 748 – 816 BTB
Alternative sequence 667 – 935 Missing. In isoform 3.
Alternative sequence 726 – 935 Missing. In isoform 4.

Literature citations

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.
Espiard S.; Drougat L.; Libe R.; Assie G.; Perlemoine K.; Guignat L.; Barrande G.; Brucker-Davis F.; Doullay F.; Lopez S.; Sonnet E.; Torremocha F.; Pinsard D.; Chabbert-Buffet N.; Raffin-Sanson M.L.; Groussin L.; Borson-Chazot F.; Coste J.; Bertagna X.; Stratakis C.A.; Beuschlein F.; Ragazzon B.; Bertherat J.;
J. Clin. Endocrinol. Metab. 100:E926-E935(2015)
Cited for: VARIANTS AIMAH2 31-LYS--ALA-935 DEL; 76-ARG--ALA-935 DEL; 86-GLN--ALA-935 DEL; ARG-139; 267-ARG--ALA-935 DEL; TRP-315; PRO-331; LEU-362; 430-GLU--ALA-935 DEL; PRO-548; 619-ARG--ALA-935 DEL; ARG-657; SER-664; PHE-700 DEL; 702-ALA--SER-706 DEL; SER-736; PRO-754; 764-ARG--ALA-935 DEL AND TRP-898; CHARACTERIZATION OF VARIANTS AIMAH2 ARG-139; TRP-315; PRO-331; LEU-362; ARG-657; SER-664; PHE-700 DEL; SER-736 AND PRO-754;

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.