Variant position: 403 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1151 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 KGFNFSVGDDAFVCQKKNHF QVTVYIGMLGEPKYVKTPEGL
Mouse KGFNFSVGDDAFVCQKKNHF QVTVYIGMLGEPKYVKTPEGL
Xenopus laevis KGFNFSTGDDSFVCQKKNHF QVTVYIGMIGEPKYVKTPEGI
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 – 1151 Myelin regulatory factor
1 – 586 Myelin regulatory factor, N-terminal
1 – 768 Cytoplasmic
250 – 541 NDT80
402 – 410
MYRF is associated with encephalopathy with reversible myelin vacuolization.
Kurahashi H.; Azuma Y.; Masuda A.; Okuno T.; Nakahara E.; Imamura T.; Saitoh M.; Mizuguchi M.; Shimizu T.; Ohno K.; Okumura A.;
Ann. Neurol. 83:98-106(2018)
Cited for: INVOLVEMENT IN MMERV; VARIANT MMERV ARG-403;
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