Variant position: 38 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 869 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 FSGTEKLPKAPVITTPLETV DALVEEVATFMCAVESYPQPE
Mouse FSGTEKLPKAPVITTPLETV DALVEEVATFMCAVESYPQPE
Rat FSGTEKLPKAPVITTPLETV DALVEEVATFMCAVESYPQPE
Chicken LSLAETLQKAPFISTPLETV DALVEDVPKFVCVVESYPEPE
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
24 – 869 Muscle, skeletal receptor tyrosine-protein kinase
24 – 495 Extracellular
28 – 116 Ig-like 1
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Gallenmuller C.; Muller-Felber W.; Dusl M.; Stucka R.; Guergueltcheva V.; Blaschek A.; von der Hagen M.; Huebner A.; Muller J.S.; Lochmuller H.; Abicht A.;
Neuromuscul. Disord. 24:31-35(2014)
Cited for: VARIANT CMS9 GLU-38;
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