Variant position: 154 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 267 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 CTLRKHKTNRKPRTPFTTSQ LLALERKFRQKQYLSIAERAE
Gorilla CTLRKHKTNRKPRTPFTTSQ LLALERKFRQKQYLSIAERAE
Chimpanzee CTLRKHKTNRKPRXXFTTSQ LLALERKFRQKQYLSIAERAE
Mouse CTLRKHKTNRKPRTPFTTSQ LLALERKFRQKQYLSIAERAE
Bovine CTLRKHKTNRKPRTPFTTSQ LLALERKFRQKQYLSIAERAE
Dog CTLRKHKTNRKPRTPFTTSQ LLALERKFRQKQYLSIAERAE
Chicken CTLRKHKTNRKPRTPFTTSQ LLALERKFRQKQYLSIAERAE
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 – 267 Homeobox protein MSX-2
142 – 201 Homeobox
147 – 147 T -> A. Does not bind DNA but still suppresses OCFRE activation.
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.
Wuyts W.; Reardon W.; Preis S.; Homfray T.; Rasore-Quartino A.; Christians H.; Willems P.J.; Van Hul W.;
Hum. Mol. Genet. 9:1251-1255(2000)
Cited for: VARIANTS PFM1 PRO-154 AND HIS-172;
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