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UniProtKB/Swiss-Prot O43511: Variant p.Gly209Val

Pendrin
Gene: SLC26A4
Variant information

Variant position:  209
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 Glycine (G) to Valine (V) at position 209 (G209V, p.Gly209Val).
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 glycine (G) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane.
Any additional useful information about the variant.

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



Sequence information

Variant position:  209
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:   ASALTLLVGIIQLIFGGLQI  G FIVRYLADPLVGGFTTAAAF
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                         ASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAF

Mouse                         ASTLTLLVGIIQLVFGGLQIGFIVRYLADPLVGGFTTAAAF

Rat                           ASTLTLLVGIIQLVFGGLQIGFIVRYLADPLVGGFTTAAAF

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
Transmembrane 192 – 212 Helical
Alternative sequence 1 – 431 Missing. In isoform 2.


Literature citations

Two frequent missense mutations in Pendred syndrome.
van Hauwe P.; Everett L.A.; Coucke P.; Scott D.A.; Kraft M.L.; Ris-Stalpers C.; Bolder C.; Otten B.; de Vijlder J.J.M.; Dietrich N.L.; Ramesh A.; Srisailapathy S.C.R.; Parving A.; Cremers C.W.R.J.; Willems P.J.; Smith R.J.H.; Green E.D.; van Camp G.;
Hum. Mol. Genet. 7:1099-1104(1998)
Cited for: VARIANTS PDS PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; HIS-409; PRO-416; TRP-445; TYR-565 AND ARG-723;

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
Usami S.; Abe S.; Weston M.D.; Shinkawa H.; Van Camp G.; Kimberling W.J.;
Hum. Genet. 104:188-192(1999)
Cited for: VARIANTS DFNB4 VAL-209; GLU-369; VAL-372; MET-721 AND ARG-723;

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;

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Campbell C.; Cucci R.A.; Prasad S.; Green G.E.; Edeal J.B.; Galer C.E.; Karniski L.P.; Sheffield V.C.; Smith R.J.H.;
Hum. Mutat. 17:403-411(2001)
Cited for: VARIANTS PDS GLN-29; CYS-105; ASP-106; PHE-138; VAL-209; PRO-236; LEU-335; PRO-416; ASP-480; HIS-530; ALA-653 AND GLU-672; VARIANT SER-597;

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;

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Prasad S.; Koelln K.A.; Cucci R.A.; Trembath R.C.; Van Camp G.; Smith R.J.H.;
Am. J. Med. Genet. A 124:1-9(2004)
Cited for: VARIANTS PDS/DFNB4 GLY-24; GLN-29; CYS-78; VAL-104; CYS-105; ASP-106; PHE-138; ALA-139; VAL-209; PRO-236; HIS-271; LEU-335; GLY-384; HIS-409; MET-410; PRO-416; ARG-421; ALA-429 DEL; TRP-445; ASP-480; HIS-530; CYS-556; TYR-565; ALA-653; GLU-672; SER-683 AND ARG-723; VARIANTS TYR-324 AND SER-597;

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Blons H.; Feldmann D.; Duval V.; Messaz O.; Denoyelle F.; Loundon N.; Sergout-Allaoui A.; Houang M.; Duriez F.; Lacombe D.; Delobel B.; Leman J.; Catros H.; Journel H.; Drouin-Garraud V.; Obstoy M.-F.; Toutain A.; Oden S.; Toublanc J.E.; Couderc R.; Petit C.; Garabedian E.-N.; Marlin S.;
Clin. Genet. 66:333-340(2004)
Cited for: VARIANTS PDS GLN-29; CYS-78; PRO-137; PHE-138; ILE-193; VAL-209; PRO-236; ASN-391; HIS-409; MET-410; PRO-416; TRP-445; HIS-530; ILE-552; PRO-694; MET-721 AND ASN-724; VARIANT SER-597;

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Choi B.Y.; Stewart A.K.; Madeo A.C.; Pryor S.P.; Lenhard S.; Kittles R.; Eisenman D.; Kim H.J.; Niparko J.; Thomsen J.; Arnos K.S.; Nance W.E.; King K.A.; Zalewski C.K.; Brewer C.C.; Shawker T.; Reynolds J.C.; Butman J.A.; Karniski L.P.; Alper S.L.; Griffith A.J.;
Hum. Mutat. 30:599-608(2009)
Cited for: VARIANTS PDS PHE-138; VAL-209; PRO-236; GLY-384; MET-402; PRO-416; TRP-445; ARG-514; HIS-530; TYR-565 AND THR-775; VARIANTS DFNB4 LEU-335; MET-402; SER-530 AND THR-775; VARIANTS SER-597; GLY-609 AND CYS-776;

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.