UniProtKB/Swiss-Prot P10071: Variant p.Ile808Met

Transcriptional activator GLI3
Gene: GLI3
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Variant information Variant position:

808 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 Isoleucine (I) to Methionine (M) at position 808 (I808M, p.Ile808Met). 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
Other resources:

Links to websites of interest for the variant.

Variant rs62622373 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1580 The length of the canonical sequence.
Location on the sequence:

GMFPRLNPILPPKAPAVSPL I GNGTQSNNTCSLGGPMTLLP 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                         GMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLP

Chimpanzee                    GMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLP

Mouse                         GMFPRLNPILPSKAPAVSPLIGNGTQSNNNYSSGGPGTLLP

Xenopus laevis                GMLPRLNPVPPHRAPTLPPITGNGVQLNSNISLGGLAPVLP

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 – 1580	Transcriptional activator GLI3
Region	745 – 845	Mediates interaction with DZIP1
Cross	800 – 800	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis	800 – 800	K -> R. Loss of proteolytic processing.

Literature citations
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactylysyndrome.
Kalff-Suske M.; Wild A.; Topp J.; Wessling M.; Jacobsen E.-M.; Bornholdt D.; Engel H.; Heuer H.; Aalfs C.M.; Ausems M.G.E.M.; Barone R.; Herzog A.; Heutink P.; Homfray T.; Gillessen-Kaesbach G.; Koenig R.; Kunze J.; Meinecke P.; Mueller D.; Rizzo R.; Strenge S.; Superti-Furga A.; Grzeschik K.-H.;
Hum. Mol. Genet. 8:1769-1777(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GCPS GLY-515 AND TYR-520; VARIANTS ALA-183; GLU-440; MET-808; LEU-998 AND CYS-1537;

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.