Variant position: 1175 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 IAIDVGSQDETDLSTYGDSL SGWWLLWKRLNPWADKVKVPD
Mouse IAIDVGSQDETDLSTYGDSL SGWWLLWKRLNPWADKVKVPD
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
1 – 1375 Neuropathy target esterase
81 – 1375 Cytoplasmic
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
Topaloglu A.K.; Lomniczi A.; Kretzschmar D.; Dissen G.A.; Kotan L.D.; McArdle C.A.; Koc A.F.; Hamel B.C.; Guclu M.; Papatya E.D.; Eren E.; Mengen E.; Gurbuz F.; Cook M.; Castellano J.M.; Kekil M.B.; Mungan N.O.; Yuksel B.; Ojeda S.R.;
J. Clin. Endocrinol. Metab. 99:E2067-E2075(2014)
Cited for: INVOLVEMENT IN BNHS; VARIANTS BNHS CYS-1147; CYS-1175 AND TRP-1359;
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