UniProtKB/SwissProt variant VAR

Intraflagellar transport protein 43 homolog
Gene: IFT43
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Variant information Variant position:

174
Type of variant:

LP/P [Disclaimer]
Residue change:

From Tryptophan (W) to Arginine (R) at position 174 (W174R, p.Trp174Arg).
Physico-chemical properties:

Change from large size and aromatic (W) to large size and basic (R)
BLOSUM score:

-3
Variant description:

In SRTD18; patient cells show reduced amount of IFT43 protein and do not have cilia.
Other resources:

Variant rs1555369050 [ dbSNP | Ensembl ]

Sequence information Variant position:

174
Protein sequence length:

208
Location on the sequence:

LKLLTKVLAPEHEVREDDVG W DWDHLFTEVSSEVLTEWDPL
Residue conservation:

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:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96FT9: Variant p.Trp174Arg