Variant position: 2366 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 PIRNQLEIYNQPNQEGPFDV KETEIAVQ-AKQPDVEEILSKG
Mouse PIRNQLEIYNQPSQAGPFDI KEIEVTVH-GKQADVERLLSK
Rat PIRNQLEIYNQPSQPGPFDL KETEVTVQ-AKQPDVERLLSK
Pig PIKNQLEIYNQPNQTGPFDI KETEVAVQ-AKQLDVEGILSK
Chicken PVKNQLELYNQVGQPGAFDI KETEAAVQ-AKQPNVEEVLSK
Caenorhabditis elegans PSRENVEGVLRDVQRLKMSI GDVKKRVQTANLPPAIKLAGK
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
2319 – 2423 Spectrin 19
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.
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Koenig M.; Monaco A.P.; Kunkel L.M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLY-882; LEU-1469 AND GLN-2366;
Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.
Feng J.; Yan J.; Buzin C.H.; Towbin J.A.; Sommer S.S.;
Mol. Genet. Metab. 77:119-126(2002)
Cited for: VARIANTS CMD3B ASN-18 AND LEU-3228; VARIANTS TRP-2155; THR-2299; GLN-2366; VAL-2910; ASP-2912 AND ARG-2937;
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.