Sequence information
Variant position: 129 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:
SEDGAAWMQEPGRYSPPPRH
M SPTTCTLRKHKTNRKPRTPF
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 SEDGAAWMQEPGRYSPPPRHM SPTTCTLRKHKTNRKPRTPF
Gorilla SEDGAAWMQEPGRYSPPPRHM SPTTCTLRKHKTNRKPRTPF
AEDGAAWMQEPGRYSPPPRHM SPTTCTLRKHKTNRKPRTPF
Chimpanzee SEDGAAWMQEPGRYSPPPRHM SPTTCTLRKHKTNRKPRXXF
Mouse SEDGAPWIQEPGRYSPPPRHM SPTTCTLRKHKTNRKPRTPF
Bovine SEDGAAWMQEPGRYSPPPRHM SPTTCTLRKHKTNRKPRTPF
Chicken SEDGTSWIQEAGRYSPPPRHL SPTACTLRKHKTNRKPRTPF
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
Mutagenesis
147 – 147
T -> A. Does not bind DNA but still suppresses OCFRE activation.
Literature citations
Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells.
Hodgkinson J.E.; Davidson C.L.; Beresford J.; Sharpe P.T.;
Biochim. Biophys. Acta 1174:11-16(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-129;
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;
Molecular cloning and expression of homeobox-containing genes during hard tissue development.
Iimura T.;
Kokubyo Gakkai Zasshi 61:590-604(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT THR-129;
Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT THR-129;
Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT THR-129;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT THR-129;
Over-expression of HOX-8, the human homologue of the mouse Hox-8 homeobox gene, in human tumors.
Suzuki M.; Tanaka M.; Iwase T.; Naito Y.; Sugimura H.; Kino I.;
Biochem. Biophys. Res. Commun. 194:187-193(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-267; VARIANT THR-129;
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.
Wilkie A.O.M.; Tang Z.; Elanko N.; Walsh S.; Twigg S.R.F.; Hurst J.A.; Wall S.A.; Chrzanowska K.H.; Maxson R.E. Jr.;
Nat. Genet. 24:387-390(2000)
Cited for: VARIANTS PFM1 159-ARG-LYS-160 DEL AND HIS-172; 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.