Variant position: 32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 388 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 KWLTLEVCREFQRGTCSRPD TECKFAHPSKSCQVENGRVIA
Mouse KWLTLEVCREFQRGTCSRPD TECKFAHPSKSCQVENGRVIA
Chicken KWLTLEVCREFQRGTCSRPD TECKFAHPSKSCQVENGRVIA
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 – 388 Muscleblind-like protein 1
13 – 41 C3H1-type 1
31 – 33
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.
Larsen M.; Kress W.; Schoser B.; Hehr U.; Mueller C.R.; Rost S.;
Eur. J. Hum. Genet. 24:1467-1472(2016)
Cited for: VARIANTS DM1 MET-32; 171-ALA--ALA-173 DEL AND SER-338;
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