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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96RY7: Variant p.Arg110His

Intraflagellar transport protein 140 homolog
Gene: IFT140
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Variant information Variant position: help 110
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 110 (R110H, p.Arg110His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 110
Protein sequence length: help 1462
Location on the sequence: help KQDKEQHTMPLTHTADITVL R WSPSGNCLLSGDRLGVLLLW
Residue conservation: help 
Human                         KQDKEQHTMPLTHTADITVLRWSPSGNCLLSGDRLGVLLLW

Mouse                         KQDKEQHTVPLPHTTDIAILSWSTSGSCLVSGDKLGVLLLW
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1462 Intraflagellar transport protein 140 homolog
Repeat 93 – 132 WD 3
Alternative sequence 1 – 806 Missing. In isoform 2.
Beta strand 106 – 111



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.