Variant position: 334 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 RSPFPSQHLEAPEDKSFGSS LMESEVNLDRYQTALEEVLSW
Mouse QSPYPSQHLEAPRDKSLDSS LMETEVNLDSYQTALEEVLSW
Rat QSPYPSQHLEAPGSKSFGSS LIETEVNLDSYQTALEEVLSW
Pig RSPFPSQRLESPEDKSFGSS LLETEVNLDSYQTALEEVLSW
Chicken RRQVPPQFLETVEKRTYTTT VMRSEMDLDSYQTALEEVLTW
Caenorhabditis elegans -GEVRSRKSSSSSQKSGKSK KARREEQLAEFKSCIEQVLTW
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
1 – 3068 Missing. In isoform 5, isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10.
2 – 1357 Missing. In isoform 1 and isoform 2.
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PHE-334; GLN-1219; HIS-1470 AND VAL-2164;
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