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UniProtKB/Swiss-Prot O43511: Variant p.Arg185Thr

Pendrin
Gene: SLC26A4
Variant information

Variant position:  185
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Arginine (R) to Threonine (T) at position 185 (R185T, p.Arg185Thr).
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 large size and basic (R) to medium size and polar (T)
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 DFNB4; also found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance; may affect subcellular location at the plasma membrane.
Any additional useful information about the variant.

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



Sequence information

Variant position:  185
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:   SSNGTVLNTTMIDTAARDTA  R VLIASALTLLVGIIQLIFGG
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                         SSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGG

Mouse                         SGNGSALNSTTLDTGTRDAARVLLASTLTLLVGIIQLVFGG

Rat                           SGNGSTLNTTTLDTGTRDAARVLLASTLTLLVGIIQLVFGG

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 157 – 191 Extracellular
Alternative sequence 1 – 431 Missing. In isoform 2.


Literature citations

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without enlarged vestibular aqueduct (EVA).
Pourova R.; Janousek P.; Jurovcik M.; Dvorakova M.; Malikova M.; Raskova D.; Bendova O.; Leonardi E.; Murgia A.; Kabelka Z.; Astl J.; Seeman P.;
Ann. Hum. Genet. 74:299-307(2010)
Cited for: VARIANT DFNB4 ILE-281; VARIANTS VAL-6; ALA-144; THR-185 AND SER-597;

Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
Chattaraj P.; Reimold F.R.; Muskett J.A.; Shmukler B.E.; Chien W.W.; Madeo A.C.; Pryor S.P.; Zalewski C.K.; Butman J.A.; Brewer C.C.; Kenna M.A.; Alper S.L.; Griffith A.J.;
JAMA Otolaryngol. Head Neck Surg. 139:907-913(2013)
Cited for: VARIANTS DFNB4 THR-185 AND LEU-335; VARIANTS LEU-335; GLY-384; TRP-445; SER-597; CYS-775 AND CYS-776; CHARACTERIZATION OF VARIANT DFNB4 THR-185;

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.