Sequence information
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:
HMSPTTCTLRKHKTNRKPRT
P FTTSQLLALERKFRQKQYLS
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 HMSPTTCTLRKHKTNRKPRTP FTTSQLLALERKFRQKQYLS
Gorilla HMSPTTCTLRKHKTNRKPRTP FTTSQLLALERKFRQKQYLS
HMSPTTCTLRKHKTNRKPRTP FTTSQLLALERKFRQKQYLS
Chimpanzee HMSPTTCTLRKHKTNRKPRXX FTTSQLLALERKFRQKQYLS
Mouse HMSPTTCTLRKHKTNRKPRTP FTTSQLLALERKFRQKQYLS
Bovine HMSPTTCTLRKHKTNRKPRTP FTTSQLLALERKFRQKQYLS
Chicken HLSPTACTLRKHKTNRKPRTP FTTSQLLALERKFRQKQYLS
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 – 267
Homeobox protein MSX-2
DNA binding
142 – 201
Homeobox
Mutagenesis
147 – 147
T -> A. Does not bind DNA but still suppresses OCFRE activation.
Literature citations
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.;
Cell 75:443-450(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT CRS2 HIS-148; VARIANT THR-129;
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.