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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q75V66: Variant p.Arg58Trp

Anoctamin-5
Gene: ANO5
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Variant information Variant position: help 58 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 58 (R58W, p.Arg58Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In LGMDR12; pathogenic; results in defective sarcolemma repair in cultured muscle cells. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 58 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 913 The length of the canonical sequence.
Location on the sequence: help SFLINEETMPAKRFNLFLRR R LMFQKNQQSKDSIFFRDGIR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SFLINEE--TMPAKRFNLFLRRRLMFQKNQQSKDSIFFRDGIR

Mouse                         SFLIPEDLQSPPEKRFNLFLRRRLMFQRSEHSKDSVFFRDG
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 913 Anoctamin-5
Topological domain 1 – 299 Cytoplasmic



Literature citations
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
Schessl J.; Kress W.; Schoser B.;
Muscle Nerve 45:740-742(2012)
Cited for: VARIANT LGMDR12 TRP-58; VARIANT MMD3 CYS-655; Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M.; Di Fruscio G.; Tasca G.; Ruggiero L.; Janssens S.; De Bleecker J.; Delpech M.; Musumeci O.; Toscano A.; Angelini C.; Sacconi S.; Santoro L.; Ricci E.; Claes K.; Politano L.; Nigro V.;
Neuromuscul. Disord. 25:533-541(2015)
Cited for: VARIANTS LGMDR12 SER-52; SER-54; TRP-58; ILE-87; GLU-93; CYS-143; LYS-202; ALA-206; VAL-231; ASN-259; SER-265; LEU-266; SER-267; LEU-404; 405-GLN--LEU-913 DEL; 421-GLN--LEU-913 DEL; GLY-506; 547-ARG--LEU-913 DEL; GLN-547; ILE-555; SER-578; ILE-618; ASN-701 DEL; SER-714; CYS-758; PRO-781; LEU-796; SER-804; VAL-830; LYS-833; ARG-839 AND LEU-900; Clinical and genetic features of anoctaminopathy in Saudi Arabia.
Bohlega S.; Monies D.M.; Abulaban A.A.; Murad H.N.; Alhindi H.N.; Meyer B.F.;
Neurosciences 20:173-177(2015)
Cited for: VARIANT LGMDR12 TRP-58; Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
Vazquez J.; Lefeuvre C.; Escobar R.E.; Luna Angulo A.B.; Miranda Duarte A.; Delia Hernandez A.; Brisset M.; Carlier R.Y.; Leturcq F.; Durand-Canard M.C.; Nicolas G.; Laforet P.; Malfatti E.;
J. Neuromuscul. Dis. 7:443-451(2020)
Cited for: VARIANTS LGMDR12 TRP-58 AND VAL-231; ANO5 ensures trafficking of annexins in wounded myofibers.
Foltz S.J.; Cui Y.Y.; Choo H.J.; Hartzell H.C.;
J. Cell Biol. 220:0-0(2021)
Cited for: VARIANT LGMDR12 TRP-58; CHARACTERIZATION OF VARIANT LGMDR12 TRP-58; FUNCTION;
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.