Variant position: 133 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 254 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 PSRAVRQSVTSFPDA-DAFHH QVHDDDLLSSSEEECKDRERP
Mouse MSKSFRQPGTSLVDA-DTFHH QVR-DDIFSSLEEEGKDRER
Rat MSKSFRRPGTSLVDADDTFHH QVR-DDIFSSSEEEGKDRER
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.
Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.
Holaska J.M.; Kowalski A.K.; Wilson K.L.;
PLoS Biol. 2:1354-1362(2004)
Cited for: FUNCTION; INTERACTION WITH ACTB; SPTAN1 AND F-ACTIN; MUTAGENESIS OF SER-196 AND SER-197; CHARACTERIZATION OF VARIANTS EDMD1 PHE-54; HIS-133 AND HIS-183;
How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?
Holt I.; Clements L.; Manilal S.; Morris G.E.;
Biochem. Biophys. Res. Commun. 287:1129-1133(2001)
Cited for: VARIANT EDMD1 HIS-133;
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