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UniProtKB/Swiss-Prot P35548: Variant p.Arg172His

Homeobox protein MSX-2
Gene: MSX2
Variant information

Variant position:  172
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Histidine (H) at position 172 (R172H, p.Arg172His).
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 large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Variant description:  In PFM1; loss of function.
Any additional useful information about the variant.

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

Sequence information

Variant position:  172
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  267
The length of the canonical 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.








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.

Chain 1 – 267 Homeobox protein MSX-2
DNA binding 142 – 201 Homeobox

Literature citations

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;

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.