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O43511

- S26A4_HUMAN

UniProt

O43511 - S26A4_HUMAN

Protein

Pendrin

Gene

SLC26A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    Functioni

    Sodium-independent transporter of chloride and iodide.1 Publication

    GO - Molecular functioni

    1. chloride transmembrane transporter activity Source: ProtInc
    2. iodide transmembrane transporter activity Source: ProtInc
    3. secondary active sulfate transmembrane transporter activity Source: InterPro
    4. sulfate transmembrane transporter activity Source: ProtInc

    GO - Biological processi

    1. chloride transmembrane transport Source: GOC
    2. inorganic anion transport Source: ProtInc
    3. ion transport Source: Reactome
    4. regulation of pH Source: UniProtKB
    5. regulation of protein localization Source: UniProtKB
    6. sensory perception of sound Source: ProtInc
    7. sulfate transmembrane transport Source: GOC
    8. sulfate transport Source: ProtInc
    9. transmembrane transport Source: Reactome

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    Chloride

    Enzyme and pathway databases

    ReactomeiREACT_19357. Multifunctional anion exchangers.

    Protein family/group databases

    TCDBi2.A.53.2.17. the sulfate permease (sulp) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pendrin
    Alternative name(s):
    Sodium-independent chloride/iodide transporter
    Solute carrier family 26 member 4
    Gene namesi
    Name:SLC26A4
    Synonyms:PDS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:8818. SLC26A4.

    Subcellular locationi

    Membrane Curated; Multi-pass membrane protein Curated. Cell membrane; Multi-pass membrane protein
    Note: Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney.By similarity

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. brush border membrane Source: UniProtKB
    3. extracellular vesicular exosome Source: UniProtKB
    4. integral component of membrane Source: ProtInc
    5. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Pendred syndrome (PDS) [MIM:274600]: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later.16 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281S → R in PDS and DFNB4. 2 Publications
    VAR_021639
    Natural varianti29 – 291E → Q in PDS. 3 Publications
    VAR_021640
    Natural varianti78 – 781Y → C in PDS. 2 Publications
    VAR_021641
    Natural varianti102 – 1021G → R in PDS; fails to localize to cell membrane; abolishes iodide transport.
    VAR_021643
    Natural varianti105 – 1051Y → C in PDS. 2 Publications
    VAR_021645
    Natural varianti106 – 1061A → D in PDS. 2 Publications
    VAR_021646
    Natural varianti117 – 1171L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 1 Publication
    Corresponds to variant rs145254330 [ dbSNP | Ensembl ].
    VAR_021647
    Natural varianti133 – 1331S → T in PDS. 2 Publications
    VAR_021649
    Natural varianti137 – 1371S → P in PDS. 1 Publication
    VAR_021650
    Natural varianti138 – 1381V → F in PDS; fails to localize to cell membrane; abolishes iodide transport. 8 Publications
    VAR_021651
    Natural varianti139 – 1391G → A in PDS. 2 Publications
    VAR_021652
    Natural varianti193 – 1931T → I in PDS. 2 Publications
    VAR_011623
    Natural varianti209 – 2091G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 7 Publications
    VAR_007440
    Natural varianti236 – 2361L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 7 Publications
    VAR_007441
    Natural varianti239 – 2391V → D in PDS and DFNB4. 2 Publications
    VAR_021653
    Natural varianti271 – 2711D → H in PDS. 2 Publications
    VAR_021655
    Natural varianti335 – 3351F → L in PDS and DFNB4. 3 Publications
    Corresponds to variant rs111033212 [ dbSNP | Ensembl ].
    VAR_021656
    Natural varianti384 – 3841E → G in PDS and PDS/DFNB4. 4 Publications
    VAR_007444
    Natural varianti391 – 3911S → N in PDS. 1 Publication
    VAR_021657
    Natural varianti402 – 4021V → M in PDS and DFNB4. 1 Publication
    VAR_058580
    Natural varianti409 – 4091R → H in PDS. 5 Publications
    VAR_021659
    Natural varianti410 – 4101T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 7 Publications
    VAR_021661
    Natural varianti411 – 4111A → P in PDS. 1 Publication
    VAR_021662
    Natural varianti416 – 4161T → P in PDS and DFNB4; common mutation. 8 Publications
    Corresponds to variant rs28939086 [ dbSNP | Ensembl ].
    VAR_007445
    Natural varianti445 – 4451L → W in PDS and DFNB4. 7 Publications
    VAR_011624
    Natural varianti446 – 4461Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 1 Publication
    VAR_021665
    Natural varianti480 – 4801V → D in PDS; retains residual transport function. 2 Publications
    VAR_021668
    Natural varianti508 – 5081T → N in PDS. 1 Publication
    VAR_027240
    Natural varianti514 – 5141Q → R in PDS. 2 Publications
    VAR_027241
    Natural varianti530 – 5301Y → H in PDS. 6 Publications
    VAR_021670
    Natural varianti530 – 5301Y → S in PDS and DFNB4. 2 Publications
    VAR_027242
    Natural varianti552 – 5521S → I in PDS. 1 Publication
    VAR_021671
    Natural varianti556 – 5561Y → C in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. 2 Publications
    VAR_021672
    Natural varianti556 – 5561Y → H in PDS. 1 Publication
    VAR_021673
    Natural varianti565 – 5651C → Y in PDS. 3 Publications
    VAR_021674
    Natural varianti653 – 6531V → A in PDS; retains residual transport function. 2 Publications
    VAR_021676
    Natural varianti667 – 6671F → C in PDS. 1 Publication
    VAR_007447
    Natural varianti672 – 6721G → E in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. 3 Publications
    VAR_021677
    Natural varianti694 – 6941S → P in PDS. 1 Publication
    VAR_021680
    Natural varianti721 – 7211T → M in DFNB4 and PDS. 4 Publications
    VAR_007448
    Natural varianti723 – 7231H → R in DFNB4 and PDS; common mutation in Korea and Japan. 5 Publications
    Corresponds to variant rs121908362 [ dbSNP | Ensembl ].
    VAR_007449
    Natural varianti724 – 7241D → N in PDS. 1 Publication
    VAR_021681
    Natural varianti775 – 7751M → T in PDS and DFNB4. 1 Publication
    VAR_058581
    Deafness, autosomal recessive, 4 (DFNB4) [MIM:600791]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281S → R in PDS and DFNB4. 2 Publications
    VAR_021639
    Natural varianti90 – 901S → L in DFNB4. 1 Publication
    VAR_021642
    Natural varianti117 – 1171L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 1 Publication
    Corresponds to variant rs145254330 [ dbSNP | Ensembl ].
    VAR_021647
    Natural varianti123 – 1231P → S in DFNB4. 1 Publication
    VAR_027238
    Natural varianti132 – 1321T → I in DFNB4. 1 Publication
    VAR_021648
    Natural varianti147 – 1471M → V in DFNB4. 1 Publication
    VAR_027239
    Natural varianti209 – 2091G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 7 Publications
    VAR_007440
    Natural varianti236 – 2361L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 7 Publications
    VAR_007441
    Natural varianti239 – 2391V → D in PDS and DFNB4. 2 Publications
    VAR_021653
    Natural varianti252 – 2521S → P in DFNB4. 1 Publication
    VAR_021654
    Natural varianti281 – 2811V → I in DFNB4. 1 Publication
    VAR_064992
    Natural varianti335 – 3351F → L in PDS and DFNB4. 3 Publications
    Corresponds to variant rs111033212 [ dbSNP | Ensembl ].
    VAR_021656
    Natural varianti369 – 3691K → E in DFNB4. 1 Publication
    VAR_007442
    Natural varianti372 – 3721A → V in DFNB4. 1 Publication
    VAR_007443
    Natural varianti384 – 3841E → G in PDS and PDS/DFNB4. 4 Publications
    VAR_007444
    Natural varianti392 – 3921N → Y in DFNB4. 1 Publication
    Corresponds to variant rs201562855 [ dbSNP | Ensembl ].
    VAR_021658
    Natural varianti402 – 4021V → M in PDS and DFNB4. 1 Publication
    VAR_058580
    Natural varianti409 – 4091R → P in DFNB4. 1 Publication
    VAR_021660
    Natural varianti410 – 4101T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 7 Publications
    VAR_021661
    Natural varianti416 – 4161T → P in PDS and DFNB4; common mutation. 8 Publications
    Corresponds to variant rs28939086 [ dbSNP | Ensembl ].
    VAR_007445
    Natural varianti445 – 4451L → W in PDS and DFNB4. 7 Publications
    VAR_011624
    Natural varianti446 – 4461Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 1 Publication
    VAR_021665
    Natural varianti455 – 4551I → F in DFNB4. 1 Publication
    VAR_021666
    Natural varianti457 – 4571N → K in DFNB4. 1 Publication
    VAR_021667
    Natural varianti490 – 4901I → L in DFNB4. 1 Publication
    VAR_021669
    Natural varianti497 – 4971G → S in DFNB4. 1 Publication
    VAR_007446
    Natural varianti530 – 5301Y → S in PDS and DFNB4. 2 Publications
    VAR_027242
    Natural varianti558 – 5581N → K in DFNB4. 1 Publication
    VAR_064993
    Natural varianti666 – 6661S → F in DFNB4. 1 Publication
    VAR_027244
    Natural varianti676 – 6761L → Q in DFNB4. 1 Publication
    VAR_021678
    Natural varianti721 – 7211T → M in DFNB4 and PDS. 4 Publications
    VAR_007448
    Natural varianti723 – 7231H → R in DFNB4 and PDS; common mutation in Korea and Japan. 5 Publications
    Corresponds to variant rs121908362 [ dbSNP | Ensembl ].
    VAR_007449
    Natural varianti775 – 7751M → T in PDS and DFNB4. 1 Publication
    VAR_058581

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi274600. phenotype.
    600791. phenotype.
    Orphaneti95713. Athyreosis.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    705. Pendred syndrome.
    95720. Thyroid hypoplasia.
    PharmGKBiPA35506.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 780780PendrinPRO_0000080164Add
    BLAST

    Proteomic databases

    PaxDbiO43511.
    PRIDEiO43511.

    PTM databases

    PhosphoSiteiO43511.

    Expressioni

    Tissue specificityi

    High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues.

    Gene expression databases

    ArrayExpressiO43511.
    BgeeiO43511.
    CleanExiHS_SLC26A4.
    GenevestigatoriO43511.

    Organism-specific databases

    HPAiHPA042860.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000265715.

    Structurei

    3D structure databases

    ProteinModelPortaliO43511.
    SMRiO43511. Positions 516-577, 620-727.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8787CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini109 – 1091ExtracellularSequence Analysis
    Topological domaini131 – 1355CytoplasmicSequence Analysis
    Topological domaini157 – 19135ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini213 – 2186CytoplasmicSequence Analysis
    Topological domaini240 – 26324ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini285 – 29511CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini317 – 34428ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini366 – 38419CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini406 – 42116ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini443 – 4486CytoplasmicSequence Analysis
    Topological domaini470 – 48617ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini508 – 780273CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei88 – 10821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei110 – 13021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei136 – 15621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei192 – 21221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei219 – 23921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei264 – 28421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei296 – 31621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei345 – 36521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei385 – 40521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei422 – 44221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei449 – 46921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei487 – 50721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini535 – 729195STASPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 STAS domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0659.
    HOGENOMiHOG000006546.
    HOVERGENiHBG000639.
    InParanoidiO43511.
    KOiK14702.
    OMAiPSWNGLG.
    OrthoDBiEOG76T9QT.
    PhylomeDBiO43511.
    TreeFamiTF313784.

    Family and domain databases

    Gene3Di3.30.750.24. 2 hits.
    InterProiIPR018045. S04_transporter_CS.
    IPR002645. STAS_dom.
    IPR001902. SulP_transpt.
    IPR011547. Sulph_transpt.
    [Graphical view]
    PfamiPF01740. STAS. 1 hit.
    PF00916. Sulfate_transp. 1 hit.
    [Graphical view]
    SUPFAMiSSF52091. SSF52091. 2 hits.
    TIGRFAMsiTIGR00815. sulP. 1 hit.
    PROSITEiPS01130. SLC26A. 1 hit.
    PS50801. STAS. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43511-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL    50
    AKCCSCSRKR AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL 100
    QGMAYALLAA VPVGYGLYSA FFPILTYFIF GTSRHISVGP FPVVSLMVGS 150
    VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA RDTARVLIAS ALTLLVGIIQ 200
    LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL NVSTKNYNGV 250
    LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI 300
    PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML 350
    AASFSIAVVA YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC 400
    FVATTALSRT AVQESTGGKT QVAGIISAAI VMIAILALGK LLEPLQKSVL 450
    AAVVIANLKG MFMQLCDIPR LWRQNKIDAV IWVFTCIVSI ILGLDLGLLA 500
    GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE EPQGVKILRF 550
    SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT 600
    KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV 650
    PKVPIHSLVL DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI 700
    EKLEQCGFFD DNIRKDTFFL TVHDAILYLQ NQVKSQEGQG SILETITLIQ 750
    DCKDTLELIE TELTEEELDV QDEAMRTLAS 780
    Length:780
    Mass (Da):85,723
    Last modified:June 1, 1998 - v1
    Checksum:i3AEF5D720B155CE0
    GO
    Isoform 2 (identifier: O43511-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-431: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:349
    Mass (Da):39,267
    Checksum:i1A8E9A33DC1037BE
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61G → V.1 Publication
    Corresponds to variant rs111033423 [ dbSNP | Ensembl ].
    VAR_064988
    Natural varianti24 – 241R → G in Pendred syndrome/deafness individuals. 1 Publication
    VAR_021638
    Natural varianti28 – 281S → R in PDS and DFNB4. 2 Publications
    VAR_021639
    Natural varianti29 – 291E → Q in PDS. 3 Publications
    VAR_021640
    Natural varianti78 – 781Y → C in PDS. 2 Publications
    VAR_021641
    Natural varianti90 – 901S → L in DFNB4. 1 Publication
    VAR_021642
    Natural varianti99 – 991T → M.1 Publication
    Corresponds to variant rs141142414 [ dbSNP | Ensembl ].
    VAR_064989
    Natural varianti102 – 1021G → R in PDS; fails to localize to cell membrane; abolishes iodide transport.
    VAR_021643
    Natural varianti104 – 1041A → V in Pendred syndrome/deafness individuals. 1 Publication
    VAR_021644
    Natural varianti105 – 1051Y → C in PDS. 2 Publications
    VAR_021645
    Natural varianti106 – 1061A → D in PDS. 2 Publications
    VAR_021646
    Natural varianti117 – 1171L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 1 Publication
    Corresponds to variant rs145254330 [ dbSNP | Ensembl ].
    VAR_021647
    Natural varianti123 – 1231P → S in DFNB4. 1 Publication
    VAR_027238
    Natural varianti132 – 1321T → I in DFNB4. 1 Publication
    VAR_021648
    Natural varianti133 – 1331S → T in PDS. 2 Publications
    VAR_021649
    Natural varianti137 – 1371S → P in PDS. 1 Publication
    VAR_021650
    Natural varianti138 – 1381V → F in PDS; fails to localize to cell membrane; abolishes iodide transport. 8 Publications
    VAR_021651
    Natural varianti139 – 1391G → A in PDS. 2 Publications
    VAR_021652
    Natural varianti144 – 1441V → A Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. 1 Publication
    VAR_064990
    Natural varianti147 – 1471M → V in DFNB4. 1 Publication
    VAR_027239
    Natural varianti185 – 1851R → T Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. 1 Publication
    VAR_064991
    Natural varianti193 – 1931T → I in PDS. 2 Publications
    VAR_011623
    Natural varianti209 – 2091G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 7 Publications
    VAR_007440
    Natural varianti236 – 2361L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 7 Publications
    VAR_007441
    Natural varianti239 – 2391V → D in PDS and DFNB4. 2 Publications
    VAR_021653
    Natural varianti252 – 2521S → P in DFNB4. 1 Publication
    VAR_021654
    Natural varianti271 – 2711D → H in PDS. 2 Publications
    VAR_021655
    Natural varianti281 – 2811V → I in DFNB4. 1 Publication
    VAR_064992
    Natural varianti301 – 3011P → L.
    Corresponds to variant rs34373141 [ dbSNP | Ensembl ].
    VAR_053663
    Natural varianti324 – 3241N → Y.1 Publication
    Corresponds to variant rs36039758 [ dbSNP | Ensembl ].
    VAR_053664
    Natural varianti335 – 3351F → L in PDS and DFNB4. 3 Publications
    Corresponds to variant rs111033212 [ dbSNP | Ensembl ].
    VAR_021656
    Natural varianti369 – 3691K → E in DFNB4. 1 Publication
    VAR_007442
    Natural varianti372 – 3721A → V in DFNB4. 1 Publication
    VAR_007443
    Natural varianti384 – 3841E → G in PDS and PDS/DFNB4. 4 Publications
    VAR_007444
    Natural varianti391 – 3911S → N in PDS. 1 Publication
    VAR_021657
    Natural varianti392 – 3921N → Y in DFNB4. 1 Publication
    Corresponds to variant rs201562855 [ dbSNP | Ensembl ].
    VAR_021658
    Natural varianti402 – 4021V → M in PDS and DFNB4. 1 Publication
    VAR_058580
    Natural varianti409 – 4091R → H in PDS. 5 Publications
    VAR_021659
    Natural varianti409 – 4091R → P in DFNB4. 1 Publication
    VAR_021660
    Natural varianti410 – 4101T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 7 Publications
    VAR_021661
    Natural varianti411 – 4111A → P in PDS. 1 Publication
    VAR_021662
    Natural varianti416 – 4161T → P in PDS and DFNB4; common mutation. 8 Publications
    Corresponds to variant rs28939086 [ dbSNP | Ensembl ].
    VAR_007445
    Natural varianti421 – 4211Q → R in Pendred syndrome/deafness individuals. 1 Publication
    VAR_021663
    Natural varianti429 – 4291Missing in Pendred syndrome/deafness individuals. 1 Publication
    VAR_021664
    Natural varianti445 – 4451L → W in PDS and DFNB4. 7 Publications
    VAR_011624
    Natural varianti446 – 4461Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 1 Publication
    VAR_021665
    Natural varianti455 – 4551I → F in DFNB4. 1 Publication
    VAR_021666
    Natural varianti457 – 4571N → K in DFNB4. 1 Publication
    VAR_021667
    Natural varianti480 – 4801V → D in PDS; retains residual transport function. 2 Publications
    VAR_021668
    Natural varianti490 – 4901I → L in DFNB4. 1 Publication
    VAR_021669
    Natural varianti497 – 4971G → S in DFNB4. 1 Publication
    VAR_007446
    Natural varianti508 – 5081T → N in PDS. 1 Publication
    VAR_027240
    Natural varianti514 – 5141Q → R in PDS. 2 Publications
    VAR_027241
    Natural varianti530 – 5301Y → H in PDS. 6 Publications
    VAR_021670
    Natural varianti530 –&n