Variant position: 239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 517 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 P-AAPAQEAGHQKVVFYLLIQ RKPLFYVINIIAPCVLISSVA
Mouse S-VAPAEEAGHQKVVFYLLIQ RKPLFYVINIIAPCVLISSV
Rat P-VTPAEEAGHQKVVFYLLIQ RKPLFYVINIIVPCVLISSV
Bovine E-AAPAEEAGHQKVVFYLLIQ RKPLFYVINIIAPCVLISSV
Chicken SGRFTPDDIQYQQVIFYLIIQ RKPLFYIINIIVPCVLISSM
Xenopus laevis H-RLPRDDVNYQQIVFYLIIQ RKPLFYIINIIVPCVLISFV
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
23 – 517 Acetylcholine receptor subunit gamma
23 – 240 Extracellular
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
Hoffmann K.; Mueller J.S.; Stricker S.; Megarbane A.; Rajab A.; Lindner T.H.; Cohen M.; Chouery E.; Adaimy L.; Ghanem I.; Delague V.; Boltshauser E.; Talim B.; Horvath R.; Robinson P.N.; Lochmueller H.; Huebner C.; Mundlos S.;
Am. J. Hum. Genet. 79:303-312(2006)
Cited for: VARIANT EVMPS CYS-239; VARIANT LMPS CYS-239;
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.