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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NBS3: Variant p.Arg739Gln

Solute carrier family 4 member 11
Gene: SLC4A11
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Variant information Variant position: help 739 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Glutamine (Q) at position 739 (R739Q, p.Arg739Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CHED; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED mutant. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 739 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 875 The length of the canonical sequence.
Location on the sequence: help VEERVENGHIYDTIVNVKET R LTSLGASVLVGLSLLLLPVP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VEERVENGHIYDTIVNVKETRLTSLGASVLVGLSLLLLPVP

Mouse                         VEERVENGHIYETIVDVKETRLTALGASVLVGLSLLLLPFP
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 875 Solute carrier family 4 member 11
Transmembrane 735 – 759 Helical



Literature citations
A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies.
Vilas G.L.; Morgan P.E.; Loganathan S.K.; Quon A.; Casey J.R.;
Biochemistry 50:2157-2169(2011)
Cited for: TOPOLOGY; CHARACTERIZATION OF VARIANTS CHED HIS-109; LYS-127; VAL-253; ARG-370; ASP-448; LEU-473; GLN-739; TRP-739 AND CYS-853; 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-448; LEU-473; GLN-739 AND CYS-853; CHARACTERIZATION OF VARIANTS CHED ASP-448; LEU-473; GLN-739 AND CYS-853; 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-127; ARG-370; TRP-739; GLN-739 AND CYS-853; Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.
Jiao X.; Sultana A.; Garg P.; Ramamurthy B.; Vemuganti G.K.; Gangopadhyay N.; Hejtmancik J.F.; Kannabiran C.;
J. Med. Genet. 44:64-68(2007)
Cited for: VARIANTS CHED GLN-739; HIS-788; MET-817 AND HIS-853; VARIANT THR-144; 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.