Variant position: 3313 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3685 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 VWLPVLHRVAAAETAKHQAK CNICKECPIIGFRYRSLKHFN
Mouse VWLPVLHRVAAAETAKHQAK CNICKECPIIGFRYRSLKHFN
Rat VWLPVLHRVAAAETAKHQAK CNICKECPIIGFRYRSLKHFN
Pig VWLPVLHRVAAAETAKHQAK CNICKECPIIGFRYRSLKHFN
Chicken VWLPVLHRVAAAETAKHQAK CNICKECPIIGFRYRSLKHFN
Caenorhabditis elegans VWLAVMHRLVISESTKHASK CNVCKMFPIIGIRYRCLTCFN
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.
Rapid direct sequence analysis of the dystrophin gene.
Flanigan K.M.; von Niederhausern A.; Dunn D.M.; Alder J.; Mendell J.R.; Weiss R.B.;
Am. J. Hum. Genet. 72:931-939(2003)
Cited for: VARIANT DMD PHE-3313; VARIANT VAL-165;
The ZZ domain of dystrophin in DMD: making sense of missense mutations.
Vulin A.; Wein N.; Strandjord D.M.; Johnson E.K.; Findlay A.R.; Maiti B.; Howard M.T.; Kaminoh Y.J.; Taylor L.E.; Simmons T.R.; Ray W.C.; Montanaro F.; Ervasti J.M.; Flanigan K.M.;
Hum. Mutat. 35:257-264(2014)
Cited for: CHARACTERIZATION OF VARIANTS DMD PHE-3313; HIS-3335 AND TYR-3340;
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