UniProtKB/Swiss-Prot P35548: Variant p.Met129Thr

Homeobox protein MSX-2
Gene: MSX2
Chromosomal location: 5q34-q35
Variant information

Variant position:  129
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Methionine (M) to Threonine (T) at position 129 (M129T, p.Met129Thr).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (M) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources:  
Links to websites of interest for the variant.



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                         SEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPF

Gorilla                       SEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPF

Chimpanzee                    SEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRXXF

Mouse                         SEDGAPWIQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPF

Bovine                        SEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPF

Dog                           AEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPF

Chicken                       SEDGTSWIQEAGRYSPPPRHLSPTACTLRKHKTNRKPRTPF

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.

TypePositionsDescription
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]; VARIANTS THR-129 AND CRS2 HIS-148;

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.