UniProtKB/Swiss-Prot O95876: Variant p.Ser708Phe

WD repeat-containing and planar cell polarity effector protein fritz homolog
Gene: WDPCP
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Variant information Variant position:

708 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 Serine (S) to Phenylalanine (F) at position 708 (S708F, p.Ser708Phe). 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 small size and polar (S) to large size and aromatic (F) 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:

No effect on the assembly of the CPLANE complex; increased binding to phosphoinositides. Any additional useful information about the variant.

Sequence information Variant position:

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

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

NGSSNRQIIDRRNELEKDIC S GFLMTNTCNAEDGELREDGR 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                         NGSS------------NRQIIDR-------------------------RN------------ELEKDICSG-----------------------------FLMTNTCNAEDGELREDG--------------R

Mouse                         NGPS------------SRWAIER------------------

Rat                           NGPS------------NRRAIER------------------

Xenopus laevis                ---A------------NRQLVHI------------------

Drosophila                    SGNIPAMLPSLTSEDYQKRLLQKKPTASILSNPANPAPTNG

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 – 746	WD repeat-containing and planar cell polarity effector protein fritz homolog
Alternative sequence	619 – 746	Missing. In isoform 2.

Literature citations
Structure of the ciliogenesis-associated CPLANE complex.
Langousis G.; Cavadini S.; Boegholm N.; Lorentzen E.; Kempf G.; Matthias P.;
Sci. Adv. 8:Eabn0832-Eabn0832(2022)
Cited for: STRUCTURE BY ELECTRON MICROSCOPY (3.35 ANGSTROMS) OF 2-746; IDENTIFICATION IN THE CPLANE COMPLEX; FUNCTION; CHARACTERIZATION OF VARIANT CHDTHP ASN-54; CHARACTERIZATION OF VARIANTS LYS-55; PHE-205 AND PHE-708; Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
Kim S.K.; Shindo A.; Park T.J.; Oh E.C.; Ghosh S.; Gray R.S.; Lewis R.A.; Johnson C.A.; Attie-Bittach T.; Katsanis N.; Wallingford J.B.;
Science 329:1337-1340(2010)
Cited for: INVOLVEMENT IN BBS15; INVOLVEMENT IN MECKEL SYNDROME; VARIANTS LYS-55; PHE-205 AND PHE-708;

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.