UniProtKB/SwissProt variant VAR

Variant information

Variant position:

148

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Proline (P) to Histidine (H) at position 148 (P148H, p.Pro148His).

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 (P) to medium size and polar (H)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

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 CRS2; gain of function.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104893895 [ dbSNP | Ensembl ]

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                         HMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLS

Gorilla                       HMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLS

                              HMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLS

Chimpanzee                    HMSPTTCTLRKHKTNRKPRXXFTTSQLLALERKFRQKQYLS

Mouse                         HMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLS

Bovine                        HMSPTTCTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLS

Chicken                       HLSPTACTLRKHKTNRKPRTPFTTSQLLALERKFRQKQYLS

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35548: Variant p.Pro148His