Variant position: 784 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 NAIEREKAEKFRKLQDASRS AQALVEQMVNEGVNADSIKQA
Mouse NAIAREKAEKFRKLQDASRS AQALVEQMANEGVNAESIRQA
Rat NAIAREKAEKFRKLQDASRS AQALVEQMVNEGVNAESIRQA
Pig NAIEREKAEKFRKLQDASRS AQALVEQMVNEGVNADSIKQA
Chicken NAIQREKPEKYRKLQDASRS AEALVEQMVNEGLNADNIRQA
Caenorhabditis elegans NTCQ-EKLIQIKEQEARVNR LQLELEHLHVAKLNARQLKRA
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.
Type Positions Description
1 – 3685 Dystrophin
719 – 828 Spectrin 4
1 – 3068 Missing. In isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17.
1 – 2729 Missing. In isoform 11.
1 – 2460 Missing. In isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10.
2 – 1357 Missing. In isoform 4 and isoform 5.
Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous.
Rosenthal A.; Speer A.; Billowitz H.; Cross G.S.; Forrest S.N.; Davies K.E.;
Nucleic Acids Res. 17:5391-5391(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS PRO-133; ILE-623; GLY-784; GLY-882; PHE-1197; ASN-1377; HIS-1745 AND SER-1844;
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.