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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96RY7: Variant p.Arg280Gln

Intraflagellar transport protein 140 homolog
Gene: IFT140
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Variant information Variant position: help 280
Type of variant: help LB/B
Residue change: help From Arginine (R) to Glutamine (Q) at position 280 (R280Q, p.Arg280Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 280
Protein sequence length: help 1462
Location on the sequence: help PPEGKAEEVMKVKLSGKTGR R ADIALIEGSLLVMAVGEAAL
Residue conservation: help 
Human                         PPEGKAEEVMKVKLSGKTGRRADIALIEGSLLVMAVGEAAL

Mouse                         TPEGEAEEVMKVKLSGKTGCRADITLIEGSLLVTAIGEPVL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1462 Intraflagellar transport protein 140 homolog
Repeat 266 – 305 WD 6
Alternative sequence 1 – 806 Missing. In isoform 2.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.