Sequence information
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:
RSPFPSQHLEAPEDKSFGSS
L MESEVNLDRYQTALEEVLSW
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 RSPFPSQHLEAPEDKSFGSSL MESEVNLDRYQTALEEVLSW
RSPLPSQHLETPEDKSFGRSL TETEANLDSYQTALEEVLSW
Mouse QSPYPSQHLEAPRDKSLDSSL METEVNLDSYQTALEEVLSW
Rat QSPYPSQHLEAPGSKSFGSSL IETEVNLDSYQTALEEVLSW
Pig RSPFPSQRLESPEDKSFGSSL LETEVNLDSYQTALEEVLSW
Chicken RRQVPPQFLETVEKRTYTTTV MRSEMDLDSYQTALEEVLTW
Caenorhabditis elegans -GEVRSRKSSSSSQKSGKSKK ARREEQLAEFKSCIEQVLTW
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
Chain
1 – 3685
Dystrophin
Alternative sequence
1 – 3068
Missing. In isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17.
Alternative sequence
1 – 2729
Missing. In isoform 11.
Alternative sequence
1 – 2460
Missing. In isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10.
Alternative sequence
2 – 1357
Missing. In isoform 4 and isoform 5.
Literature citations
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.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PHE-334; GLN-1219; HIS-1470 AND VAL-2164;
Disclaimer:
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.