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UniProtKB/Swiss-Prot O60494: Variant p.Leu969Val

Cubilin
Gene: CUBN
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Variant information Variant position: help 969
Type of variant: help LB/B
Residue change: help From Leucine (L) to Valine (V) at position 969 (L969V, p.Leu969Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 969
Protein sequence length: help 3623
Location on the sequence: help PNVYPHGINCTWHILVQPNH L IHLMFETFHLEFHYNCTNDY
Residue conservation: help 
Human                         PNVYPHGINCTWHILVQPNHLIHLMFETFHLEF--HYNCTNDY

                              PNIYPHGINCTWHILVQPGHLIHLIFRKFHLEF--HYNCTN

Mouse                         PNVYPSGVNCTWHIVVQRGQLIRLVFSSFYLEF--HYNCAN

Rat                           PNVYPRGVNCTWHVVVQRGQLIRLEFSSFYLEF--HYNCTN

Pig                           PNIYPHGVNCTWHILVQPGHLIHLEIRQFHLEF--HYNCTR

Caenorhabditis elegans        PEKYQPHMHCVYNLYVSWSKTVKLTFDVFDLEVTPAKSCEY

Drosophila                    DDSYAGEATCYWVIMAPANKAIRLHWNSFSLEN--AVDCIY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 36 – 3623 Cubilin
Domain 932 – 1042 CUB 5
Binding site 980 – 980
Binding site 988 – 988
Glycosylation 957 – 957 N-linked (GlcNAc...) asparagine
Glycosylation 984 – 984 N-linked (GlcNAc...) asparagine
Beta strand 966 – 972



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.