UniProtKB/Swiss-Prot Q9ULD6: Variant p.Glu500Ala

Protein inturned
Gene: INTU
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Variant information Variant position:

500 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 Glutamate (E) to Alanine (A) at position 500 (E500A, p.Glu500Ala). 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 acidic (E) to small size and hydrophobic (A) 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
Variant description:

In SRTD20; uncertain significance; impairs recruitment of IFT43 to the basal body, but no effect on subcellular location, when tested in a heterologous system. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1360128571 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LEIKMELDMALSDLEAADFA E LSEDYYDMRRLYTILGSSLF 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                         LEIKMELDMALSDLEAADFAELSEDYYDMRRLYTILGSSLF

Mouse                         QELKVELDTALSDLEAADFEELSEDYYDMRRLYTILGSSLF

Rat                           QELKVELDTALSDLEAADFQELSEDYYDMRRLYTILGSSLF

Bovine                        QEIKLELDTALSDLEAADFAELSEDYYDMRRLYTILGSSLF

Xenopus laevis                EDIKIQIDTVLSDLEALDFAELSEDYYEMRRLYMIIGTCIF

Xenopus tropicalis            EDIKMEIDTVLSDLEALDFAELSEDFYEMRRLYMIIGTCLF

Zebrafish                     PDIKVEVDTVLSDFESSDFGDMSEDFYGMRRLYVILGSCLF

Drosophila                    KEAQLRIFDALSEMEAMDYRNWNDEPLTTHREFFIYGSALY

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 – 942	Protein inturned
Alternative sequence	409 – 942	Missing. In isoform 2.
Alternative sequence	436 – 942	Missing. In isoform 3.

Literature citations
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M.; Lee C.; Taylor S.P.; Duran I.; Cohn D.H.; Bruel A.L.; Tabler J.M.; Drew K.; Kelly M.R.; Kim S.; Park T.J.; Braun D.A.; Pierquin G.; Biver A.; Wagner K.; Malfroot A.; Panigrahi I.; Franco B.; Al-Lami H.A.; Yeung Y.; Choi Y.J.; Duffourd Y.; Faivre L.; Riviere J.B.; Chen J.; Liu K.J.; Marcotte E.M.; Hildebrandt F.; Thauvin-Robinet C.; Krakow D.; Jackson P.K.; Wallingford J.B.;
Nat. Genet. 48:648-656(2016)
Cited for: INVOLVEMENT IN OFD17; SRTD7/20 AND SRTD20; FUNCTION; INTERACTION WITH CPLANE1; VARIANT THR-452; VARIANTS SRTD20 355-GLU--LEU-942 DEL AND ALA-500; VARIANT SRTD7/20 276-GLN--LEU-942 DEL; CHARACTERIZATION OF VARIANTS SRTD20 355-GLU--LEU-942 DEL AND ALA-500;

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.