Variant position: 3340 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 PIIGFRYRSLKHFNYDICQS CFFSGRVAKGHKMHYPMVEYC
Mouse PIIGFRYRSLKHFNYDICQS CFFSGRVAKGHKMHYPMVEYC
Pig PIIGFRYRSLKHFNYDICQS CFFSGRVAKGHKMHYPMVEYC
Dog PIIGFRYRSLKHFNYDICQS CFFSGRVAKGHKMHYPMVEYC
Chicken PIIGFRYRSLKHFNYDICQS CFFSGRVAKGHKMHYPMVEYC
Caenorhabditis elegans PIIGIRYRCLTCFNCDLCQN CFFSQRTAKSHRTNHPMQEYC
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 cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave.
Lenk U.; Oexle K.; Voit T.; Ancker U.; Hellner K.A.; Speer A.; Hubner C.;
Hum. Mol. Genet. 5:973-975(1996)
Cited for: VARIANT DMD TYR-3340;
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;
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.