UniProtKB/Swiss-Prot Q0VG99: Variant p.Leu125Val

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

125 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 Leucine (L) to Valine (V) at position 125 (L125V, p.Leu125Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Polymorphism:

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

In a patient with spondylocostal dysostosis; inactive. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs71647806 [ dbSNP | Ensembl ]

Sequence information Variant position:

125 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:

RRFLPPSLAPAGQSLTKIET L RLAIRYIGHLSAVLGLSEES 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                         RRFLPPSLAPAGQSLTKIETLRLAIRYIGHLSAVLGLSEES

Mouse                         RRFLPPSVAPAGQSLTKIETLRLAIRYIGHLSALLGLSEDS

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
Domain	81 – 135	bHLH

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.