Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96FT9: Variant p.Trp174Arg

Intraflagellar transport protein 43 homolog
Gene: IFT43
Feedback?
Variant information Variant position: help 174 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Tryptophan (W) to Arginine (R) at position 174 (W174R, p.Trp174Arg). 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: help Change from large size and aromatic (W) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In SRTD18; patient cells show reduced amount of IFT43 protein and do not have cilia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 174 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 208 The length of the canonical sequence.
Location on the sequence: help LKLLTKVLAPEHEVREDDVG W DWDHLFTEVSSEVLTEWDPL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LKLLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTE-WDPL

                              LKLLTKVLAPEHEVREDDVNWDWDRLYTEVSSELLSE-WDL

Mouse                         LKLLTKVLAPEHEVREDDVGWDWDHLYTEVSSELLTE-WDL

Bovine                        LKLLTKVLAPEHEVREDDVSWDWDHLYTEVSSELLSE-WDA

Xenopus laevis                LKLLTKVLSPEPEVREENVRWDWDLLFTEVSSELITE-WDV

Xenopus tropicalis            LKLLTKVLSPEPEVREENVQWDWDLLFTEVSSELITE-WDV

Zebrafish                     LKLLTKVLAPEQEVREEDVGWDWDHL--EVSSELQSE-WDE

Caenorhabditis elegans        VSILGRSFPTEKTVDEEG-PWTAQSLFNSLESRIKKERIDA
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 208 Intraflagellar transport protein 43 homolog
Alternative sequence 83 – 208 DFRLRPQSLNGSDYGGDIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT -> EYVSSILILMVSYVDLGQQCSLGGHDLFHLC. In isoform 4.
Alternative sequence 99 – 208 DIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT -> AVPKQANNSWI. In isoform 3.



Literature citations
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.
Duran I.; Taylor S.P.; Zhang W.; Martin J.; Qureshi F.; Jacques S.M.; Wallerstein R.; Lachman R.S.; Nickerson D.A.; Bamshad M.; Cohn D.H.; Krakow D.;
Cilia 6:7-7(2017)
Cited for: FUNCTION; INVOLVEMENT IN SRTD18; VARIANT SRTD18 ARG-174; CHARACTERIZATION OF VARIANT SRTD18 ARG-174;
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.