Variant position: 1470 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 KLQDVSMKFRLFQKPANFEQ RLQESKMILDEVKMHLPALET
Mouse KLQDVSMKFRLFQKPANFEQ RLEESKMILDEVKMHLPALET
Rat KLQDVSIKFRLFQKPANFEQ RLEESKMILDEVKMHLPALET
Pig KLQDVSMKFRLFQKPANFEQ RLQESKMILDEVKMHLPALEI
Chicken KLQDVSMKFRLFQKPANFEQ RLQECKRILDEVKLQVPKLET
Caenorhabditis elegans TMAELKRKFNEFKRPKGFEE KLEKVITTLSNVEMGLD--DT
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
1468 – 1568 Spectrin 11
1415 – 1913 Interaction with SYNM
1 – 3068 Missing. In isoform 5, isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10.
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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