UniProtKB/Swiss-Prot O95876: Variant p.Arg55Lys

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

55 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 Arginine (R) to Lysine (K) at position 55 (R55K, p.Arg55Lys). 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 large size and basic. 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:

In a patient with Meckel syndrome compound heterozygous for mutations in CC2D2A; no effect on the assembly of the CPLANE complex. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs267606693 [ dbSNP | Ensembl ]

Sequence information Variant position:

55 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:

SFCLTELHLWSLKNTLHIAD R DIGIYQYYDKKDPPATEHGN 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                         SFCLTELHLWSL--KNTLHIADRDIGIYQYYDKKDPP--ATEHGN

Mouse                         SFCLTELHLWSL--KSTLHIADRDIGVYQYYDKKDPSVSAT

Rat                           SFCLTELHLWSL--KSTLHIADRDIGVYQYYDKKDLPVSAA

Xenopus laevis                SFCLTELYLWSL--KNNLHIGDEDVGVHQYHEKKEAAL-HP

Drosophila                    -MLLSETHFWTTLREDVVRIKSQDLGAFRYLRQRDKEQEQQ

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	1 – 166	MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIYQYYDKKDPPATEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSKWKNKYVCQLLFGSGVLVSLSLSGPQLEKVVIDRSLVGKLISDTISD -> MFSSLHS. In isoform 3.

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.