Variant position: 148 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 HMSPTTCTLRKHKTNRKPRT PFTTSQLLALERKFRQKQYLS
Gorilla HMSPTTCTLRKHKTNRKPRT PFTTSQLLALERKFRQKQYLS
Chimpanzee HMSPTTCTLRKHKTNRKPRX XFTTSQLLALERKFRQKQYLS
Mouse HMSPTTCTLRKHKTNRKPRT PFTTSQLLALERKFRQKQYLS
Bovine HMSPTTCTLRKHKTNRKPRT PFTTSQLLALERKFRQKQYLS
Dog HMSPTTCTLRKHKTNRKPRT PFTTSQLLALERKFRQKQYLS
Chicken HLSPTACTLRKHKTNRKPRT PFTTSQLLALERKFRQKQYLS
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.
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
Jabs E.W.; Ma L.; Li X.; Mueller U.; Sparkes R.S.; Luo W.; Jackson C.E.; Warman M.L.; Mulliken J.B.; Snead M.; Haworth I.; Maxson R.E.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT CRS2 HIS-148; VARIANT THR-129;
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.