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UniProtKB/Swiss-Prot O43511: Variant p.Leu117Phe

Pendrin
Gene: SLC26A4
Variant information

Variant position:  117
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 Leucine (L) to Phenylalanine (F) at position 117 (L117F, p.Leu117Phe).
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 hydrophobic (L) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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 DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport.
Any additional useful information about the variant.

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



Sequence information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  780
The length of the canonical sequence.

Location on the sequence:   VATLQGMAYALLAAVPVGYG  L YSAFFPILTYFIFGTSRHIS
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                         VATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHIS

Mouse                         VGTLQGMAYALLAAVPVQFGLYSAFFPILTYFVFGTSRHIS

Rat                           VGTLQGMAYALLAAVPVQYGLYSAFFPILTYFVFGTSRHIS

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 – 780 Pendrin
Topological domain 109 – 109 Extracellular
Transmembrane 110 – 130 Helical
Alternative sequence 1 – 431 Missing. In isoform 2.


Literature citations

Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene.
Reardon W.; O'Mahoney C.F.; Trembath R.; Jan H.; Phelps P.D.;
QJM 93:99-104(2000)
Cited for: VARIANTS DFNB4 PHE-117; VAL-209; PRO-236; MET-410; PRO-416; TRP-445 AND ARG-446;

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
Taylor J.P.; Metcalfe R.A.; Watson P.F.; Weetman A.P.; Trembath R.C.;
J. Clin. Endocrinol. Metab. 87:1778-1784(2002)
Cited for: CHARACTERIZATION OF VARIANTS PDS ARG-102; PHE-117; PHE-138; VAL-209; PRO-236; MET-410; ARG-446; CYS-556 AND GLU-672;

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.