Variant position: 139 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 412 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 AQLGGQVSLSMGNAFLGLSV FQKALESFEKALRYAHNNDDA
Mouse AQLGGQVSLSMGNAFLGLSL FQKALESFEKALRYAHNNDDT
Chicken LQLNGQVSLSMGNAFLGLSI FQKALECFEKALRYAHNNDDK
Caenorhabditis elegans PRTPGYAHLTIALAHLGMSQ FQQCLESFESAMNVANETSDR
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
2 – 412 43 kDa receptor-associated protein of the synapse
123 – 156 TPR 3
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A.; Stricker S.; Becker J.; Rupps R.; Pantzar T.; Miertus J.; Botta G.; Naretto V.G.; Janetzki C.; Yaqoob N.; Ott C.-E.; Seelow D.; Wieczorek D.; Fiebig B.; Wirth B.; Hoopmann M.; Walther M.; Koerber F.; Blankenburg M.; Mundlos S.; Heller R.; Hoffmann K.;
Am. J. Hum. Genet. 82:464-476(2008)
Cited for: VARIANTS FADS2 SER-139 AND VAL-189;
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