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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75923: Variant p.Gly155Arg

Dysferlin
Gene: DYSF
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Variant information Variant position: help 155
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 155 (G155R, p.Gly155Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In LGMDR2.
Other resources: help


Sequence information Variant position: help 155
Protein sequence length: help 2080
Location on the sequence: help PPTPLEPSPTLPDLDVVADT G GEEDTEDQGLTGDEAEPFLD
Residue conservation: help
Human                         PPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLD

Mouse                         PPASLAPSPTLPDMDLVPDTGGEEDTEDQGLTGDEAEPFLD

Bovine                        PLTPLEPSPTLPDMDTVADTGGEEDTEDQGLTGDEAEPFLD

Sequence annotation in neighborhood: help
TypePositionsDescription
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.