Variant position: 1519 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2321 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 DCASEVPALLARGVLVLTVL LPPEELLRSSADFLQRLSAIL
Mouse DCASEVPALLARGVLVLTVL LPPEELLRSSADFLQRLSAIL
Rat DCASEVPALLARGVLVLTVL LPPEELLRSSADFLQRLSAIL
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
40 – 2321 Neurogenic locus notch homolog protein 3
40 – 1643 Extracellular
1510 – 1519
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti J.A.; Tian L.; Li D.; Ramirez M.C.; Camacho-Vanegas O.; Camacho S.C.; Guo Y.; Zand D.J.; Bernstein A.M.; Masur S.K.; Kim C.E.; Otieno F.G.; Hou C.; Abdel-Magid N.; Tweddale B.; Metry D.; Fournet J.C.; Papp E.; McPherson E.W.; Zabel C.; Vaksmann G.; Morisot C.; Keating B.; Sleiman P.M.; Cleveland J.A.; Everman D.B.; Zackai E.; Hakonarson H.;
Am. J. Hum. Genet. 92:1001-1007(2013)
Cited for: VARIANT IMF2 PRO-1519;
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