Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NBS3: Variant p.Leu457Arg

Solute carrier family 4 member 11
Gene: SLC4A11
Feedback?
Variant information Variant position: help 457
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Arginine (R) at position 457 (L457R, p.Leu457Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In CHED.


Sequence information Variant position: help 457
Protein sequence length: help 875
Location on the sequence: help DLDFNSFYAWTGLWNSFFLA L YAFFNLSLVMSLFKRSTEEI
Residue conservation: help 
Human                         DLDFNSFYAWTGLWNSFFLALYAFFNLSLVMSLFKRSTEEI

Mouse                         NLDFNAFYAWTGLWNSFFLALYAFLNLSLLMNLFKRSTEEI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 875 Solute carrier family 4 member 11
Transmembrane 444 – 467 Helical
Alternative sequence 1 – 466 Missing. In isoform 2.
Helix 440 – 460



Literature citations
Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.
Sultana A.; Garg P.; Ramamurthy B.; Vemuganti G.K.; Kannabiran C.;
Mol. Vis. 13:1327-1332(2007)
Cited for: VARIANTS CHED TRP-193; LEU-197; CYS-217; LYS-385; ASP-402; ARG-457; LEU-473; LYS-568; TRP-739; GLN-739; LEU-757; MET-808 AND CYS-853;
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.