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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y666: Variant p.Ala408Thr

Solute carrier family 12 member 7
Gene: SLC12A7
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Variant information Variant position: help 408
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 408 (A408T, p.Ala408Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 408
Protein sequence length: help 1083
Location on the sequence: help AFVEKKGVPSVPVAEESRAS A LPYVLTDIAASFTLLVGIYF
Residue conservation: help 
Human                         AFVEKKGVPSVPVAEESRASALPYVLTDIAASFTLLVGIYF

Mouse                         AFVEKKGVSSVPVSEESRPGGLPYVLTDIMTYFTMLVGIYF

Rat                           AFVEKKGVSSVPVSEESRPGGLPYVLTDIMTYFTMLVGIYF

Rabbit                        AFVEKKGVASVPTPEDGRASGLPYVLSDITTYFTVLVGIYF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1083 Solute carrier family 12 member 7
Topological domain 301 – 419 Extracellular
Alternative sequence 267 – 1083 Missing. In isoform 2.
Turn 406 – 408



Literature citations
Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family.
Mount D.B.; Mercado A.; Song L.; Xu J.; George A.L. Jr.; Delpire E.; Gamba G.;
J. Biol. Chem. 274:16355-16362(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-408; TISSUE SPECIFICITY;
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.