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UniProtKB/Swiss-Prot Q96FT9: Variant p.Trp174Arg

Intraflagellar transport protein 43 homolog
Gene: IFT43
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Variant information Variant position: help 174
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tryptophan (W) to Arginine (R) at position 174 (W174R, p.Trp174Arg).
Physico-chemical properties: help Change from large size and aromatic (W) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In SRTD18; patient cells show reduced amount of IFT43 protein and do not have cilia.
Other resources: help


Sequence information Variant position: help 174
Protein sequence length: help 208
Location on the sequence: help LKLLTKVLAPEHEVREDDVG W DWDHLFTEVSSEVLTEWDPL
Residue conservation: help
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
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.