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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BXC9: Variant p.Ala504Val

BBSome complex member BBS2
Gene: BBS2
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Variant information Variant position: help 504
Type of variant: help LB/B
Residue change: help From Alanine (A) to Valine (V) at position 504 (A504V, p.Ala504Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 504
Protein sequence length: help 721
Location on the sequence: help YALTSLDPASEPISYVNFTI A ERAQRVVVWLGQNFLLPEDT
Residue conservation: help 
Human                         YALTSLDPAS---EPISYVNFTIAERAQRVVVWLGQNFL----LPEDT

Mouse                         YALTSPDAAS---EPVSYVNFSVAERTQRMVTWLNQNFL--

Rat                           YALTSPDAAS---EPVSFVNFIVVERAQRMVTWLNQNFL--

Zebrafish                     YDLNVDPSAP---EPTGKVTFCINDRPQRVVMWLNQNFL--

Caenorhabditis elegans        FTLLREEYSKFFYMPTAYIQFDINSRAAKLSEWVQESFTID
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 721 BBSome complex member BBS2



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.