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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NBS3: Variant p.Cys370Arg

Solute carrier family 4 member 11
Gene: SLC4A11
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Variant information Variant position: help 370 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 Cysteine (C) to Arginine (R) at position 370 (C370R, p.Cys370Arg). 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 medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; the mutant protein is retained intracellularly; coexpression with wild-type protein partially rescues the cell surface trafficking of CHED2 mutant. Any additional useful information about the variant.


Sequence information Variant position: help 370 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 IGKNKAVGKYITTTLFLYFA C LLPTIAFGSLNDENTDGAID 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                         IGKNKAVGKYITTTLFLYFACLLPTIAFGSLNDENTDGAID

Mouse                         IGKSKSVGKYVTTTLFLYFACLLPTIAFGSLNDENTNGAID
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 359 – 381 Helical
Alternative sequence 1 – 466 Missing. In isoform 2.
Helix 356 – 384



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; 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; Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.
Hemadevi B.; Veitia R.A.; Srinivasan M.; Arunkumar J.; Prajna N.V.; Lesaffre C.; Sundaresan P.;
Arch. Ophthalmol. 126:700-708(2008)
Cited for: VARIANTS CHED HIS-109; THR-144; VAL-253; ARG-370; TRP-739; LEU-757 AND PRO-857; Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.
Paliwal P.; Sharma A.; Tandon R.; Sharma N.; Titiyal J.S.; Sen S.; Nag T.C.; Vajpayee R.B.;
Mol. Vis. 16:2955-2963(2010)
Cited for: VARIANTS CHED ARG-370 AND MET-808; Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations.
Vilas G.L.; Loganathan S.K.; Quon A.; Sundaresan P.; Vithana E.N.; Casey J.;
Hum. Mutat. 33:419-428(2012)
Cited for: CHARACTERIZATION OF VARIANTS CHED LYS-127; ARG-370 AND TRP-739; CHARACTERIZATION OF VARIANTS FECD4 LYS-383; GLU-693 AND MET-738; HOMODIMERIZATION;
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.