Variant position: 790 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 PPESIFYNRYTTESDVWAYG VVLWEIFSYGLQPYYGMAHEE
Mouse PPESIFYNRYTTESDVWAYG VVLWEIFSYGLQPYYGMAHEE
Rat PPESIFYNRYTTESDVWAYG VVLWEIFSYGLQPYYGMAHEE
Chicken PPESIFYNRYTTESDVWAYG VVLWEIFSYGMQPYYGMAHEE
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
517 – 869 Cytoplasmic
575 – 856 Protein kinase
MUSK, a new target for mutations causing congenital myasthenic syndrome.
Chevessier F.; Faraut B.; Ravel-Chapuis A.; Richard P.; Gaudon K.; Bauche S.; Prioleau C.; Herbst R.; Goillot E.; Ioos C.; Azulay J.-P.; Attarian S.; Leroy J.-P.; Fournier E.; Legay C.; Schaeffer L.; Koenig J.; Fardeau M.; Eymard B.; Pouget J.; Hantai D.;
Hum. Mol. Genet. 13:3229-3240(2004)
Cited for: VARIANT CMS9 MET-790; INVOLVEMENT IN CMS9;
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