Variant position: 316 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 321 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 SAESMGPDSRPDPDGRLPTP SAPLHS
Mouse SVTPTRPTPKSEP------- ------
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 – 321 Low affinity immunoglobulin epsilon Fc receptor membrane-bound form
150 – 321 Low affinity immunoglobulin epsilon Fc receptor soluble form
48 – 321 Extracellular
Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia.
Hersheson J.; Mencacci N.E.; Davis M.; Macdonald N.; Trabzuni D.; Ryten M.; Pittman A.; Paudel R.; Kara E.; Fawcett K.; Plagnol V.; Bhatia K.P.; Medlar A.J.; Stanescu H.C.; Hardy J.; Kleta R.; Wood N.W.; Houlden H.;
Ann. Neurol. 73:546-553(2013)
Cited for: VARIANT PHE-316;
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