Variant position: 490 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 821 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 DPDDSEVICSFLVALMQKNR RKDRKLGASLFTIGFAIYEVP
Mouse DPEDSEVICSFLVALMQKNR RKDRKLGANLFTIGFAIYEVP
Rat DPDDSEVICSFLVALMQKNR RKDRKLGANLFTIGFAIYEVP
Pig DPDDSEVICSFLVALMQKNR RKDRKLGANLFTIGFAIYEVP
Bovine DPDDSEVICSFLVALMQKNR RKDRKLGANLFTIGFAIYEVP
Sheep DPDDSEVICSFLVALMQKNR RKDRKLGANLFTIGFAIYEVP
Chicken DPEDEEVICSFLVALMQKNR RKERKLGANLYTIGFAIYEVP
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 – 821 Calpain-3
418 – 586 Domain III
1 – 665 Missing. In isoform V.
1 – 512 Missing. In isoform IV.
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
Richard I.; Brenguier L.; Dincer P.; Roudaut C.; Bady B.; Burgunder J.-M.; Chemaly R.; Garcia C.A.; Halaby G.; Jackson C.E.; Kurnit D.M.; Lefranc G.; Legum C.; Loiselet J.; Merlini L.; Nivelon-Chevallier A.; Ollagnon-Roman E.; Restagno G.; Topaloglu H.; Beckmann J.S.;
Am. J. Hum. Genet. 60:1128-1138(1997)
Cited for: VARIANTS LGMDR1 PHE-86; 215-SER--GLY-221 DEL; PRO-215; LEU-319; GLN-334; TRP-440; TRP-490; ARG-496; TRP-567; TRP-572; LEU-606; VAL-702 AND GLN-748;
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.