OMIM Mutated Sequence Browser
Detailed information of OMIM mutated sequence
Mutated Sequence Name No
100725.0011.P01
OMIM AV No
100725.0011
OMIM No
100725
OMIM Name
*100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE;;ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT; ACHRE
Mutated information [1]
Type : Point
Amino acid level : (52 - 52) : ['C' -> 'T']
Nucleotide acid level : (156 - 156)
Sequence Length
492 aa
Sequence Viewer
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|......10|.......20|.......30|.......40|.......50|.......60|.......70|.......80| |
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MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNLISLNEKEETLTTSVWIGIDW
QDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQ
NCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP
LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLSVPLLGRFLIFVMVVATLIVM
NCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPPEAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRH
RQGTWTAAFCQSLGAAAPEVRCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFN
RVPDLPYAPCIQ |
