Variant position: 362 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 935 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 PTSQQPLVRAVCLLCREAIN RARLRDAGGLDLLMGLLRDPR
Mouse SATQQPLVRAVCLLCREAIN RARLRDAGGLELLMGLLQDPG
Rat SASQQPLVRAVCLLCREAIN RARLRDAGGLELLMGLLQDPG
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
1 – 935 Armadillo repeat-containing protein 5
359 – 403 ARM 6
A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.
Albiger N.M.; Regazzo D.; Rubin B.; Ferrara A.M.; Rizzati S.; Taschin E.; Ceccato F.; Arnaldi G.; Pecori Giraldi F.; Stigliano A.; Cerquetti L.; Grimaldi F.; De Menis E.; Boscaro M.; Iacobone M.; Occhi G.; Scaroni C.;
Cited for: VARIANTS ALA-56 AND LEU-483; VARIANTS AIMAH2 TRP-362; 364-ARG--ALA-935 DEL; PRO-580; ARG-731 AND 764-ARG--ALA-935 DEL;
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