Variant position: 107 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 LRWDPRDYEGLWVLRVPSTM VWRPDIVLENNVDGVFEVALY
Mouse LRWDPKDYEGLWILRVPSTM VWRPDIVLENNVDGVFEVALY
Rat LRWDPKDYEGLWILRVPSTM VWQPDIVLGNNVDGVFEVALY
Bovine LRWDPRDYGGLWVLRVPSTM VWRPDIVLENNVDGVFEVALY
Chicken LRWDPDKYDDIQQLRVPSAM VWLPDIVLENNIDGTFEITLY
Xenopus laevis LSWDPNDYHGISMMRIPSTS VWLPDVGLENNVDGTFDIALY
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
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
Morgan N.V.; Brueton L.A.; Cox P.; Greally M.T.; Tolmie J.; Pasha S.; Aligianis I.A.; van Bokhoven H.; Marton T.; Al-Gazali L.; Morton J.E.V.; Oley C.; Johnson C.A.; Trembath R.C.; Brunner H.G.; Maher E.R.;
Am. J. Hum. Genet. 79:390-395(2006)
Cited for: VARIANT EVMPS GLY-107; VARIANT LMPS GLY-107;
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