Variant position: 284 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 LPAQAGGQKCTVSINVLLAQ TVFLFLIAQKIPETSLSVPLL
Mouse LPAQAGGQKCTVSINVLLAQ TVFLFLIAQKIPETSLSVPLL
Rat LPAQAGGQKCTVSINVLLAQ TVFLFLIAQKIPETSLSVPLL
Bovine LPAQAGGQKCTVSINVLLAQ TVFLFLIAQKTPETSLSVPLL
Xenopus laevis LPAKAGGQKCTVSISVLLAQ TVFLFLIAQMVPETSLSVPLI
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
273 – 291 Helical
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
Ohno K.; Hutchinson D.O.; Milone M.; Brengman J.M.; Bouzat C.; Sine S.M.; Engel A.G.;
Proc. Natl. Acad. Sci. U.S.A. 92:758-762(1995)
Cited for: VARIANT CMS4A PRO-284; CHARACTERIZATION OF VARIANT CMS4A PRO-284;
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.