Variant position: 283 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 643 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 SRGRIPVLSWIHPESQATIT RCSQPMVGVSGKRSKEDEKYL
Mouse SRGRIPVLSWIHPESQATVT RCSQPMVGVSGKRSKEDEKYL
Bovine SRGRIPVLSWIHPESQATIT RCSQPMVGVSGKRSKEDEKYL
Chicken SRGRIPVLSWIHPESQATIT RCSQPMVGVSGKRSKEDEKYL
Zebrafish AKGRIPVLSWIHPESQAAVV RSSQPMVGQNGRRCKEDEKLL
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 – 643 Myotubularin-related protein 2
205 – 580 Myotubularin phosphatase
280 – 284
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Nelis E.; Erdem S.; Tan E.; Loefgren A.; Ceuterick C.; De Jonghe P.; Van Broeckhoven C.; Timmerman V.; Topaloglu H.;
Neuromuscul. Disord. 12:869-873(2002)
Cited for: VARIANT CMT4B1 TRP-283;
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