UniProtKB/Swiss-Prot Q0VG99: Variant p.Ser224Phe

Mesoderm posterior protein 2
Gene: MESP2
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Variant information Variant position:

224 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Serine (S) to Phenylalanine (F) at position 224 (S224F, p.Ser224Phe). 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 small size and polar (S) to large size and aromatic (F) 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
Polymorphism:

The number of GQ repeats at position 179 is polymorphic. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs71647807 [ dbSNP | Ensembl ]

Sequence information Variant position:

224 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

397 The length of the canonical sequence.
Location on the sequence:

QGRRPGLVSAVLAEASWGSP S ACPGAQAAPERLGRGVHDTD 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                         QGRRPGLVSAVLAEASWGSPSACPGAQAAPERLGRGVHDTD

Mouse                         ----PSLGSAMSSGVSWGCPPACPGPLISPENLGNRISNVD

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 – 397	Mesoderm posterior protein 2
Region	222 – 295	Disordered

Literature citations
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
Cornier A.S.; Staehling-Hampton K.; Delventhal K.M.; Saga Y.; Caubet J.-F.; Sasaki N.; Ellard S.; Young E.; Ramirez N.; Carlo S.E.; Torres J.; Emans J.B.; Turnpenny P.D.; Pourquie O.;
Am. J. Hum. Genet. 82:1334-1341(2008)
Cited for: VARIANTS GLY-66; VAL-125 AND PHE-224; CHARACTERIZATION OF VARIANT VAL-125;

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.