UniProtKB/SwissProt variant VAR

Variant information

Variant position:

247

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

Type of variant:

US

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 Phenylalanine (F) to Serine (S) at position 247 (F247S, p.Phe247Ser).

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 aromatic (F) to small size and polar (S)

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:

Found in a patient with Kleefstra syndrome; unknown pathological significance.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs398122411 [ dbSNP | Ensembl ]

Sequence information

Variant position:

247

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

Protein sequence length:

352

The length of the canonical sequence.

Location on the sequence:

EDGARVSPTVGFQVEFLELL F HFHGTLRKLQLQEPEYVLLA

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                         EDGARVSPTVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLA

Rhesus macaque                EDAARVSPAVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLA

Chimpanzee                    EDGAR----VGFQVEFLELLFHFHGTLRKLQLQEPEYVLLA

Mouse                         EDAVH----AGFQYEFLESILHFHKNLKGLHLQEPEYVLMA

Rat                           EDAVH----VGFQYEFLELIIHFHKTLKRLQLQEPEYALMA

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 – 352	Nuclear receptor subfamily 1 group I member 3
Domain	109 – 352	NR LBD
Alternative sequence	232 – 274	VSPTVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLAAMALFSP -> APYLT. In isoform 3.
Alternative sequence	232 – 274	Missing. In isoform 4, isoform 7, isoform 14 and isoform 15.
Helix	240 – 255

Literature citations

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Kleefstra T.; Kramer J.M.; Neveling K.; Willemsen M.H.; Koemans T.S.; Vissers L.E.; Wissink-Lindhout W.; Fenckova M.; van den Akker W.M.; Kasri N.N.; Nillesen W.M.; Prescott T.; Clark R.D.; Devriendt K.; van Reeuwijk J.; de Brouwer A.P.; Gilissen C.; Zhou H.; Brunner H.G.; Veltman J.A.; Schenck A.; van Bokhoven H.;
Am. J. Hum. Genet. 91:73-82(2012)
Cited for: VARIANT SER-247;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14994: Variant p.Phe247Ser