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UniProtKB/Swiss-Prot Q8NBS3: Variant p.Glu399Lys

Sodium bicarbonate transporter-like protein 11
Gene: SLC4A11
Variant information

Variant position:  399
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glutamate (E) to Lysine (K) at position 399 (E399K, p.Glu399Lys).
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:  Change from medium size and acidic (E) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In FECD4; affects protein processing and transport to the cell surface; the mutant protein is retained intracellularly; coexpression with wild-type protein does not rescue the cell surface trafficking of FECD4 mutant.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  399
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:   TLFLYFACLLPTIAFGSLND  E NTDGAIDVQKTIAGQSIGGL
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                         TLFLYFACLLPTIAFGSLNDENTDGAIDVQKTIAGQSIGGL

Mouse                         TLFLYFACLLPTIAFGSLNDENTNGAIDVQKTIAGQSIGGL

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.

TypePositionsDescription
Chain 1 – 891 Sodium bicarbonate transporter-like protein 11
Region 376 – 891 Membrane (bicarbonate transporter)
Alternative sequence 1 – 482 Missing. In isoform 2.


Literature citations

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.
Vithana E.N.; Morgan P.E.; Ramprasad V.; Tan D.T.H.; Yong V.H.K.; Venkataraman D.; Venkatraman A.; Yam G.H.F.; Nagasamy S.; Law R.W.K.; Rajagopal R.; Pang C.P.; Kumaramanickevel G.; Casey J.R.; Aung T.;
Hum. Mol. Genet. 17:656-666(2008)
Cited for: SUBCELLULAR LOCATION; GLYCOSYLATION; VARIANTS FECD4 LYS-399; GLU-709 AND MET-754; VARIANTS THR-72; VAL-91; VAL-327; MET-561 AND LEU-565; CHARACTERIZATION OF VARIANTS FECD4 LYS-399; GLU-709 AND MET-754;

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: HOMODIMERIZATION; CHARACTERIZATION OF VARIANTS CHED LYS-143; ARG-386 AND TRP-755; CHARACTERIZATION OF VARIANTS FECD4 LYS-399; GLU-709 AND MET-754;

Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.
Soumittra N.; Loganathan S.K.; Madhavan D.; Ramprasad V.L.; Arokiasamy T.; Sumathi S.; Karthiyayini T.; Rachapalli S.R.; Kumaramanickavel G.; Casey J.R.; Rajagopal R.;
J. Hum. Genet. 59:444-453(2014)
Cited for: VARIANTS FECD4 SER-240; LYS-399; ILE-434 AND ILE-507; CHARACTERIZATION OF VARIANTS FECD4 SER-240; ILE-434 AND ILE-507; FUNCTION; SUBCELLULAR LOCATION;

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.