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HOME > OMIM MUTATED SEQUENCE BROWSER > LIST OF OMIM MUTATED SEQUENCES > DETAILED INFORMATION OF OMIM MUTATED SEQUENCE

OMIM Mutated Sequence Browser

Detailed information of OMIM mutated sequence

Mutated Sequence Name No

100725.0008.D01

OMIM AV No

100725.0008

OMIM No

100725

OMIM Name

*100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE;;ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT; ACHRE

Mutated information [1]

Type : Deletion
 Amino acid level : (344 - 493) : ['C' -> '']
 Nucleotide acid level : (1030 - 1030)

Sequence Length

382 aa

Sequence Viewer

|......10|.......20|.......30|.......40|.......50|.......60|.......70|.......80|
+ 1
81
161
241
321

MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNLISLNEKEETLTTSVWIGIDW
QDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQ
NCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP
LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLSVPLLGRFLIFVMVVATLIVM
NCVIVLNVSQRTPTTHAMSPRLRTFSWSCCRASWAPRRRPRPPGPPRPQGGRRRWAYCSARR

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