Variant position: 1066 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1375 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 VLEPVLDLTYPVTSMFTGSA FNRSIHRVFQDKQIEDLWLPY
Mouse VLEPVLDLTYPVTSMFTGSA FNRSIHRVFQDKQIEDLWLPY
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.
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Synofzik M.; Gonzalez M.A.; Lourenco C.M.; Coutelier M.; Haack T.B.; Rebelo A.; Hannequin D.; Strom T.M.; Prokisch H.; Kernstock C.; Durr A.; Schols L.; Lima-Martinez M.M.; Farooq A.; Schule R.; Stevanin G.; Marques W. Jr.; Zuchner S.;
Cited for: VARIANTS SPG39 ILE-263 AND GLU-840; VARIANTS BNHS TRP-578; LEU-1045; ILE-1058; SER-1066; MET-1110 AND LEU-1122; VARIANTS GLY-1100 AND GLY-1362;
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.