Sequence information
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:
VWLPVLHRVAAAETAKHQAK
C NICKECPIIGFRYRSLKHFN
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 VWLPVLHRVAAAETAKHQAKC NICKECPIIGFRYRSLKHFN
VWLPVLHRVAAAETAKHQAKC NICKECPIIGFRYRSLKHFN
Mouse VWLPVLHRVAAAETAKHQAKC NICKECPIIGFRYRSLKHFN
Rat VWLPVLHRVAAAETAKHQAKC NICKECPIIGFRYRSLKHFN
Pig VWLPVLHRVAAAETAKHQAKC NICKECPIIGFRYRSLKHFN
Chicken VWLPVLHRVAAAETAKHQAKC NICKECPIIGFRYRSLKHFN
Caenorhabditis elegans VWLAVMHRLVISESTKHASKC NVCKMFPIIGIRYRCLTCFN
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.
Literature citations
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;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.