UniProtKB/Swiss-Prot Q9ULV1: Variant p.Pro168Ser

Frizzled-4
Gene: FZD4
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Variant information Variant position:

168 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 Proline (P) to Serine (S) at position 168 (P168S, p.Pro168Ser). 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 medium size and hydrophobic (P) to small size and polar (S) 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 rs61735303 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FPPQNDHNHMCMEGPGDEEV P LPHKTPIQPGEECHSVGTNS 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                         FPPQNDHNHMCMEGPGDEEVPLPHKTPIQPGEECHSVGTNS

Mouse                         FPPQNDHNHMCMEGPGDEEVPLPHKTPIQPGEECHSVGSNS

Rat                           FPPQNDHNHMCMEGPGDEEVPLPHKTPIQPGEECHSVGTNS

Chicken                       FPPQNDHNHMCMEGPGDEEVPLHSKTSLQPGEECHSMGSNS

Xenopus laevis                FPPQNDHNHMCMEGPGDDEVPAHSKTPVLPGEDCNSFGPNS

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	37 – 537	Frizzled-4
Topological domain	37 – 212	Extracellular

Literature citations
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
Toomes C.; Bottomley H.M.; Scott S.; Mackey D.A.; Craig J.E.; Appukuttan B.; Stout J.T.; Flaxel C.J.; Zhang K.; Black G.C.M.; Fryer A.; Downey L.M.; Inglehearn C.F.;
Invest. Ophthalmol. Vis. Sci. 45:2083-2090(2004)
Cited for: VARIANTS EVR1 ASP-36; THR-105; VAL-157 AND PHE-497; VARIANT SER-168; Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.
MacDonald M.L.; Goldberg Y.P.; Macfarlane J.; Samuels M.E.; Trese M.T.; Shastry B.S.;
Clin. Genet. 67:363-366(2005)
Cited for: VARIANTS EVR1 SER-33 AND VAL-256; VARIANT SER-168; Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
Boonstra F.N.; van Nouhuys C.E.; Schuil J.; de Wijs I.J.; van der Donk K.P.; Nikopoulos K.; Mukhopadhyay A.; Scheffer H.; Tilanus M.A.D.; Cremers F.P.M.; Hoefsloot L.H.;
Invest. Ophthalmol. Vis. Sci. 50:4379-4385(2009)
Cited for: VARIANTS EVR1 SER-33; LYS-223 AND PRO-445; VARIANT SER-168;

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.