UniProtKB/Swiss-Prot Q96RY7: Variant p.Pro1353Arg

Intraflagellar transport protein 140 homolog
Gene: IFT140
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Variant information Variant position:

1353 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 Arginine (R) at position 1353 (P1353R, p.Pro1353Arg). 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 large size and basic (R) 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
Other resources:

Links to websites of interest for the variant.

Variant rs146666187 [ dbSNP | Ensembl ]

Sequence information Variant position:

1353 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1462 The length of the canonical sequence.
Location on the sequence:

QSRMALVKRFIQARRTYTED P KESIKQCELLLEEPDLDSTI 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                         QSRMALVKRFIQARRTYTEDPKESIKQCELLLEEPDLDSTI

Mouse                         QSKMTLVKRFIQARRTYTEDPKESLRQCELLLEEPDLDSTI

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 – 1462	Intraflagellar transport protein 140 homolog
Helix	1353 – 1364

Literature citations
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M.; Frank V.; Eisenberger T.; Al Turki S.; Bizet A.A.; Antony D.; Rix S.; Decker C.; Bachmann N.; Bald M.; Vinke T.; Toenshoff B.; Di Donato N.; Neuhann T.; Hartley J.L.; Maher E.R.; Bogdanovic R.; Peco-Antic A.; Mache C.; Hurles M.E.; Joksic I.; Guc-Scekic M.; Dobricic J.; Brankovic-Magic M.; Bolz H.J.; Pazour G.J.; Beales P.L.; Scambler P.J.; Saunier S.; Mitchison H.M.; Bergmann C.;
Hum. Mutat. 34:714-724(2013)
Cited for: SUBCELLULAR LOCATION; VARIANTS HIS-110; THR-161; GLY-243; SER-459; HIS-514; GLY-787 AND ARG-1353; VARIANTS SRTD9 PHE-152; GLY-267; MET-292; GLU-522 AND ARG-1360; CHARACTERIZATION OF VARIANT SRTD9 MET-292;

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.