UniProtKB/SwissProt variant VAR

Variant information

Variant position:

252

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

Type of variant:

LP/P [Disclaimer]

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 Proline (P) at position 252 (L252P, p.Leu252Pro).

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:

-3

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:

In BBSOAS; decreases transcriptional activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs587777276 [ dbSNP | Ensembl ]

Sequence information

Variant position:

252

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

Protein sequence length:

423

The length of the canonical sequence.

Location on the sequence:

EWARNIPFFPDLQITDQVSL L RLTWSELFVLNAAQCSMPLH

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                         EWARNIPFFPDLQIT-----------DQVSLLRLTWSELFVLNAAQCSMPLH

Mouse                         EWARNIPFFPDLQIT-----------DQVSLLRLTWSELFV

Bovine                        EWARNIPFFPDLQIT-----------DQVSLLRLTWSELFV

Baker's yeast                 ENASKTPSYSTSSHTIASGGNYTEHNKRKRSLNMHGVFLHV

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 – 423	COUP transcription factor 1
Domain	184 – 410	NR LBD

Literature citations

NR2F1 mutations cause optic atrophy with intellectual disability.
Bosch D.G.; Boonstra F.N.; Gonzaga-Jauregui C.; Xu M.; de Ligt J.; Jhangiani S.; Wiszniewski W.; Muzny D.M.; Yntema H.G.; Pfundt R.; Vissers L.E.; Spruijt L.; Blokland E.A.; Chen C.A.; Lewis R.A.; Tsai S.Y.; Gibbs R.A.; Tsai M.J.; Lupski J.R.; Zoghbi H.Y.; Cremers F.P.; de Vries B.B.; Schaaf C.P.;
Am. J. Hum. Genet. 94:303-309(2014)
Cited for: INVOLVEMENT IN BBSOAS; VARIANTS BBSOAS LYS-112; ARG-113; PRO-115 AND PRO-252; CHARACTERIZATION OF VARIANTS BBSOAS LYS-112; ARG-113; PRO-115 AND PRO-252;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10589: Variant p.Leu252Pro