Variant position: 3335 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 ICKECPIIGFRYRSLKHFNY DICQSCFFSGRVAKGHKMHYP
Mouse ICKECPIIGFRYRSLKHFNY DICQSCFFSGRVAKGHKMHYP
Rat ICKECPIIGFRYRSLKHFNY DICQSCFFSGRVAKGHKMHYP
Pig ICKECPIIGFRYRSLKHFNY DICQSCFFSGRVAKGHKMHYP
Chicken ICKECPIIGFRYRSLKHFNY DICQSCFFSGRVAKGHKMHYP
Caenorhabditis elegans VCKMFPIIGIRYRCLTCFNC DLCQNCFFSQRTAKSHRTNHP
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.
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.
Goldberg L.R.; Hausmanowa-Petrusewicz I.; Fidzianska A.; Duggan D.J.; Steinberg L.S.; Hoffman E.P.;
Ann. Neurol. 44:971-976(1998)
Cited for: VARIANT DMD HIS-3335;
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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