Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 493 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 GVAYDANVLVYEGGSVTWLP PAIYRSVCAVEVTYFPFDWQN
Mouse GVAYDSNVLVYEGGYVSWLP PAIYRSTCAVEVTYFPFDWQN
Rat GVAYDCNVLVYEGGSVSWLP PAIYRSTCAVEVTYFPFDWQN
Bovine GVAYEANVLVSEGGYLSWLP PAIYRSTCAVEVTYFPFDWQN
Xenopus laevis EVAYYANVLVYNTGYIYWLP PAIFRSTCNIEITYFPFDWQN
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
21 – 493 Acetylcholine receptor subunit epsilon
21 – 239 Extracellular
161 – 161 N-linked (GlcNAc...) asparagine
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
Ohno K.; Wang H.-L.; Milone M.; Bren N.; Brengman J.M.; Nakano S.; Quiram P.; Pruitt J.N. II; Sine S.M.; Engel A.G.;
Cited for: VARIANTS CMS4B ARG-13; LEU-141 AND LEU-163; CHARACTERIZATION OF VARIANTS CMS4B ARG-13; LEU-141 AND LEU-163;
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.