UniProtKB/Swiss-Prot O75923 : Variant p.Gly155Arg
Dysferlin
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Variant information
Variant position:
155
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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:
155 (G155R, p.Gly155Arg).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Variant description:
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
155
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
2080
The length of the canonical sequence.
Location on the sequence:
G GEEDTEDQGLTGDEAEPFLD
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 PPTPLEPSPTLPDLDVVADTG GEEDTEDQGLTGDEAEPFLD
Mouse PPASLAPSPTLPDMDLVPDTG GEEDTEDQGLTGDEAEPFLD
Bovine PLTPLEPSPTLPDMDTVADTG GEEDTEDQGLTGDEAEPFLD
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
1 – 2080 Dysferlin
Topological domain
1 – 2046 Cytoplasmic
Region
132 – 215 Disordered
Compositional bias
155 – 172 Acidic residues
Modified residue
166 – 166 Phosphothreonine
Alternative sequence
152 – 152 A -> AGGGQSRAETWSLLSDSTMDTRYSGKKWPAPT. In isoform 2, isoform 5, isoform 7, isoform 8, isoform 11 and isoform 13.
Literature citations
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.
