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UniProtKB/Swiss-Prot Q6P5W5: Variant p.Val372Leu

Zinc transporter ZIP4
Gene: SLC39A4
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Variant information Variant position: help 372
Type of variant: help LB/B
Residue change: help From Valine (V) to Leucine (L) at position 372 (V372L, p.Val372Leu).
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 372
Protein sequence length: help 647
Location on the sequence: help GCRGVTHYILQTFLSLAVGA V TGDAVLHLTPKVLGLHTHSE
Residue conservation: help 
Human                         GCRGVTHYILQTFLSLAVGAVTGDAVLHLTPKVLGLHTHSE

Mouse                         KCSTATHYIMQTFLSLAVGALTGDALLHLIPKVLGLHTHGG

Rat                           KCSTATHYIMQTFLSLAVGALTGDALLHLIPKVLGLHTHSG

Bovine                        SCSTTSHYIIQAFLSMAVGALTGDALLHLMPKVLGLHTHDG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 23 – 647 Zinc transporter ZIP4
Transmembrane 360 – 380 Helical; Name=2
Mutagenesis 375 – 375 D -> A. Reduces zinc transport activity; when associated with A-379.
Mutagenesis 379 – 379 H -> A. Reduces zinc transport activity; when associated with A-375.
Mutagenesis 388 – 388 H -> A. Does not affect zinc sensing.
Mutagenesis 390 – 390 H -> A. Does not affect zinc sensing.



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.