Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NPI8: Variant p.Val295Ile

Fanconi anemia group F protein
Gene: FANCF
Feedback?
Variant information Variant position: help 295
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 295 (V295I, p.Val295Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 295
Protein sequence length: help 374
Location on the sequence: help LGLLTDWGQRLHYDLQKGIW V GTESQDVPWEELHNRFQSLC
Residue conservation: help 
Human                         LGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLC

Mouse                         LDLLTTWATRLHYDLQKGAWVPTQMEDMPWEELCLRLQSLC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 374 Fanconi anemia group F protein
Mutagenesis 287 – 287 Y -> A. Strongly reduced monoubiquitination of FANCD2; when associated with A-289; A-339; A-341 and A-344.
Mutagenesis 289 – 289 L -> A. Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-339; A-341 and A-344.
Beta strand 293 – 295



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.