UniProtKB/SwissProt variant VAR

Variant information

Variant position:

172

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 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

Involvement in disease:

Parietal foramina 1 (PFM1) [MIM:168500]: Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. {ECO:0000269|PubMed:10742103, ECO:0000269|PubMed:10767351}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In PFM1; loss of function.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104893896 [ dbSNP | Ensembl ]

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.

Location on the sequence:

SQLLALERKFRQKQYLSIAE R AEFSSSLNLTETQVKIWFQN

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                         SQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQN

Gorilla                       SQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQN

                              SQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQN

Chimpanzee                    SQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQN

Mouse                         SQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQN

Bovine                        SQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQN

Chicken                       SQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQN

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

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35548: Variant p.Arg172His