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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BXC9: Variant p.Glu629Lys

BBSome complex member BBS2
Gene: BBS2
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Variant information Variant position: help 629
Type of variant: help US
Residue change: help From Glutamate (E) to Lysine (K) at position 629 (E629K, p.Glu629Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10; uncertain significance.
Other resources: help


Sequence information Variant position: help 629
Protein sequence length: help 721
Location on the sequence: help KLSADMADHSNLIRSLLVGA E DARLMRDMKTMKSRYMELYD
Residue conservation: help 
Human                         KLSADMADHSNLIRSLLVGAEDARLMRDMKTMKSRYMELYD

Mouse                         KLSADMADNSNLIRSLLVRAEDARLMRDMKTMKSRYMELYD

Rat                           KLSANMADNSNLIRSLLVRAEDARLMRDMKTMKTRYMELYD

Zebrafish                     KLTAAMADHSNYIRNMLVQAEDARLMGDWRNMKKRYIELYD

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



Literature citations
Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes.
Hjortshoj T.D.; Gronskov K.; Philp A.R.; Nishimura D.Y.; Riise R.; Sheffield V.C.; Rosenberg T.; Brondum-Nielsen K.;
Hum. Mutat. 31:429-436(2010)
Cited for: VARIANT LYS-629;
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.