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:
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 VATLQGMAYALLAAVPVGYG LYSAFFPILTYFIFGTSRHIS
Mouse VGTLQGMAYALLAAVPVQFG LYSAFFPILTYFVFGTSRHIS
Rat VGTLQGMAYALLAAVPVQYG LYSAFFPILTYFVFGTSRHIS
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 – 780 Pendrin
109 – 109 Extracellular
110 – 130 Helical
1 – 431 Missing. In isoform 2.
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.;
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;
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.