Variant position: 869 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 891 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SSLPYMKMIFPLIMIAMIPI RYILLPRIIEAKYLDVMDAEH
Mouse SSLPYMKMVFPLIMIAMIPI RYNLLPRIIEAKYLDVMDAEH
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 891 Sodium bicarbonate transporter-like protein 11
853 – 873 Helical
376 – 891 Membrane (bicarbonate transporter)
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
Vithana E.N.; Morgan P.; Sundaresan P.; Ebenezer N.D.; Tan D.T.H.; Mohamed M.D.; Anand S.; Khine K.O.; Venkataraman D.; Yong V.H.K.; Salto-Tellez M.; Venkatraman A.; Guo K.; Hemadevi B.; Srinivasan M.; Prajna V.; Khine M.; Casey J.R.; Inglehearn C.F.; Aung T.;
Nat. Genet. 38:755-757(2006)
Cited for: VARIANTS CHED ASP-464; LEU-489; GLN-755 AND CYS-869; CHARACTERIZATION OF VARIANTS CHED ASP-464; LEU-489; GLN-755 AND CYS-869; TISSUE SPECIFICITY;
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.
Ramprasad V.L.; Ebenezer N.D.; Aung T.; Rajagopal R.; Yong V.H.; Tuft S.J.; Viswanathan D.; El-Ashry M.F.; Liskova P.; Tan D.T.; Bhattacharya S.S.; Kumaramanickavel G.; Vithana E.N.;
Hum. Mutat. 28:522-523(2007)
Cited for: VARIANTS CHED LYS-143; ARG-386; TRP-755; GLN-755 AND CYS-869;
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-209; LEU-213; CYS-233; LYS-401; ASP-418; ARG-473; LEU-489; LYS-584; TRP-755; GLN-755; LEU-773; MET-824 AND CYS-869;
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.