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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75923: Variant p.Arg1022Gln

Dysferlin
Gene: DYSF
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Variant information Variant position: help 1022 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Glutamine (Q) at position 1022 (R1022Q, p.Arg1022Gln). 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 medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 1022 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2080 The length of the canonical sequence.
Location on the sequence: help DLNRAVDEQGWEYSITIPPE R KPKHWVPAEKMYYTHRRRRW 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                         DLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRW

Mouse                         DLNRAVDEQGWEYSITIPPDRKPKHWVPVEKMYYTHRRRRW

Bovine                        DLNRAVDEQGWEYSITIPPDRKPRHWVPAEKMYYTHRRRRW

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 – 2080 Dysferlin
Topological domain 1 – 2046 Cytoplasmic
Beta strand 1021 – 1023



Literature citations
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.
Cagliani R.; Fortunato F.; Giorda R.; Rodolico C.; Bonaglia M.C.; Sironi M.; D'Angelo M.G.; Prelle A.; Locatelli F.; Toscano A.; Bresolin N.; Comi G.P.;
Neuromuscul. Disord. 13:788-795(2003)
Cited for: VARIANTS LGMDR2 TRP-959; GLN-1038 AND LYS-1335; VARIANTS GLN-1022; ALA-GLU-1065 INS AND LEU-1331; Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
Kawabe K.; Goto K.; Nishino I.; Angelini C.; Hayashi Y.K.;
Eur. J. Neurol. 11:657-661(2004)
Cited for: VARIANTS MMD1 ARG-618; CYS-1041; LYS-1335; ARG-1361 AND ARG-1662; VARIANTS LGMDR2 LYS-1335 AND CYS-1505; VARIANTS GLN-1022 AND ALA-GLU-1065 INS; Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M.; Beroud C.; Labelle V.; Nguyen K.; Bernard R.; Bassez G.; Figarella-Branger D.; Fernandez C.; Bouvenot J.; Richard I.; Ollagnon-Roman E.; Bevilacqua J.A.; Salvo E.; Attarian S.; Chapon F.; Pellissier J.-F.; Pouget J.; Hammouda el H.; Laforet P.; Urtizberea J.A.; Eymard B.; Leturcq F.; Levy N.;
Hum. Mutat. 30:E345-E375(2009)
Cited for: VARIANTS LGMDR2 ARG-52; ARG-155; GLU-234; THR-284; TRP-555; ARG-618; ARG-731; CYS-930; PRO-1228; THR-1526; ASP-1543; TRP-1768; SER-1970 AND CYS-2042; VARIANTS MMD1 GLU-299; 386-PHE--ASP-390 DELINS TYR; ARG-426; TRP-456; TRP-555; LEU-1029; HIS-1046; HIS-1046; GLN-1693; 1938-THR-ALA-1939 DEL AND CYS-2042; VARIANTS GLU-170; TRP-253 AND TRP-555; VARIANTS PROXIMODISTAL MYOPATHY ARG-299; ARG-340; VAL-1748; TRP-1768 AND CYS-2042; VARIANT PSEUDOMETABOLIC MYOPATHY PRO-266; VARIANTS VAL-84; VAL-189; ALA-335; LEU-374; ASN-390; GLN-819; GLN-1022; GLN-1038; VAL-1276; VAL-1325; ASN-1837 AND SER-1967;
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.