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Protein

Pendrin

Gene

SLC26A4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Sodium-independent transporter of chloride and iodide.1 Publication

GO - Molecular functioni

GO - Biological processi

  • bicarbonate transport Source: GO_Central
  • inorganic anion transport Source: ProtInc
  • ion transport Source: Reactome
  • regulation of intracellular pH Source: GO_Central
  • regulation of membrane potential Source: GO_Central
  • regulation of pH Source: UniProtKB
  • regulation of protein localization Source: UniProtKB
  • sensory perception of sound Source: ProtInc
  • sulfate transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000091137-MONOMER.
ReactomeiR-HSA-427601. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:8818. SLC26A4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 87CytoplasmicSequence analysisAdd BLAST87
Transmembranei88 – 108HelicalSequence analysisAdd BLAST21
Topological domaini109ExtracellularSequence analysis1
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Topological domaini131 – 135CytoplasmicSequence analysis5
Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Topological domaini157 – 191ExtracellularSequence analysisAdd BLAST35
Transmembranei192 – 212HelicalSequence analysisAdd BLAST21
Topological domaini213 – 218CytoplasmicSequence analysis6
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Topological domaini240 – 263ExtracellularSequence analysisAdd BLAST24
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Topological domaini285 – 295CytoplasmicSequence analysisAdd BLAST11
Transmembranei296 – 316HelicalSequence analysisAdd BLAST21
Topological domaini317 – 344ExtracellularSequence analysisAdd BLAST28
Transmembranei345 – 365HelicalSequence analysisAdd BLAST21
Topological domaini366 – 384CytoplasmicSequence analysisAdd BLAST19
Transmembranei385 – 405HelicalSequence analysisAdd BLAST21
Topological domaini406 – 421ExtracellularSequence analysisAdd BLAST16
Transmembranei422 – 442HelicalSequence analysisAdd BLAST21
Topological domaini443 – 448CytoplasmicSequence analysis6
Transmembranei449 – 469HelicalSequence analysisAdd BLAST21
Topological domaini470 – 486ExtracellularSequence analysisAdd BLAST17
Transmembranei487 – 507HelicalSequence analysisAdd BLAST21
Topological domaini508 – 780CytoplasmicSequence analysisAdd BLAST273

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • brush border membrane Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: GO_Central
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Pendred syndrome (PDS)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:274600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02163928S → R in PDS and DFNB4. 2 PublicationsCorresponds to variant rs539699299dbSNPEnsembl.1
Natural variantiVAR_02164029E → Q in PDS. 3 PublicationsCorresponds to variant rs111033205dbSNPEnsembl.1
Natural variantiVAR_02164178Y → C in PDS. 2 Publications1
Natural variantiVAR_021643102G → R in PDS; fails to localize to cell membrane; abolishes iodide transport. 1 Publication1
Natural variantiVAR_021645105Y → C in PDS. 2 Publications1
Natural variantiVAR_021646106A → D in PDS. 2 Publications1
Natural variantiVAR_021647117L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 2 PublicationsCorresponds to variant rs145254330dbSNPEnsembl.1
Natural variantiVAR_021649133S → T in PDS. 2 PublicationsCorresponds to variant rs121908365dbSNPEnsembl.1
Natural variantiVAR_021650137S → P in PDS. 1 Publication1
Natural variantiVAR_021651138V → F in PDS; fails to localize to cell membrane; abolishes iodide transport. 9 PublicationsCorresponds to variant rs111033199dbSNPEnsembl.1
Natural variantiVAR_021652139G → A in PDS. 2 Publications1
Natural variantiVAR_011623193T → I in PDS. 2 PublicationsCorresponds to variant rs111033348dbSNPEnsembl.1
Natural variantiVAR_007440209G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 8 PublicationsCorresponds to variant rs111033303dbSNPEnsembl.1
Natural variantiVAR_007441236L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant rs80338848dbSNPEnsembl.1
Natural variantiVAR_021653239V → D in PDS and DFNB4. 2 PublicationsCorresponds to variant rs111033256dbSNPEnsembl.1
Natural variantiVAR_021655271D → H in PDS. 2 Publications1
Natural variantiVAR_021656335F → L in PDS and DFNB4. 3 PublicationsCorresponds to variant rs111033212dbSNPEnsembl.1
Natural variantiVAR_007444384E → G in PDS and PDS/DFNB4. 4 PublicationsCorresponds to variant rs111033244dbSNPEnsembl.1
Natural variantiVAR_021657391S → N in PDS. 1 Publication1
Natural variantiVAR_058580402V → M in PDS and DFNB4. 1 PublicationCorresponds to variant rs397516414dbSNPEnsembl.1
Natural variantiVAR_021659409R → H in PDS. 5 PublicationsCorresponds to variant rs111033305dbSNPEnsembl.1
Natural variantiVAR_021661410T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant rs111033220dbSNPEnsembl.1
Natural variantiVAR_021662411A → P in PDS. 1 Publication1
Natural variantiVAR_007445416T → P in PDS and DFNB4; common mutation. 8 PublicationsCorresponds to variant rs28939086dbSNPEnsembl.1
Natural variantiVAR_011624445L → W in PDS and DFNB4. 7 PublicationsCorresponds to variant rs111033307dbSNPEnsembl.1
Natural variantiVAR_021665446Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 2 PublicationsCorresponds to variant rs768471577dbSNPEnsembl.1
Natural variantiVAR_021668480V → D in PDS; retains residual transport function. 2 Publications1
Natural variantiVAR_027240508T → N in PDS. 1 Publication1
Natural variantiVAR_027241514Q → R in PDS. 2 PublicationsCorresponds to variant rs111033316dbSNPEnsembl.1
Natural variantiVAR_021670530Y → H in PDS. 6 PublicationsCorresponds to variant rs111033254dbSNPEnsembl.1
Natural variantiVAR_027242530Y → S in PDS and DFNB4. 2 PublicationsCorresponds to variant rs747636919dbSNPEnsembl.1
Natural variantiVAR_021671552S → I in PDS. 1 Publication1
Natural variantiVAR_021672556Y → C in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. 3 PublicationsCorresponds to variant rs763006761dbSNPEnsembl.1
Natural variantiVAR_021673556Y → H in PDS. 1 Publication1
Natural variantiVAR_021674565C → Y in PDS. 3 PublicationsCorresponds to variant rs111033257dbSNPEnsembl.1
Natural variantiVAR_021676653V → A in PDS; retains residual transport function. 2 Publications1
Natural variantiVAR_007447667F → C in PDS. 1 PublicationCorresponds to variant rs121908360dbSNPEnsembl.1
Natural variantiVAR_021677672G → E in PDS; partially affects protein localization to cell membrane; abolishes iodide transport. 4 PublicationsCorresponds to variant rs111033309dbSNPEnsembl.1
Natural variantiVAR_021680694S → P in PDS. 1 Publication1
Natural variantiVAR_007448721T → M in DFNB4 and PDS. 4 PublicationsCorresponds to variant rs121908363dbSNPEnsembl.1
Natural variantiVAR_007449723H → R in DFNB4 and PDS; common mutation in Korea and Japan. 5 PublicationsCorresponds to variant rs121908362dbSNPEnsembl.1
Natural variantiVAR_021681724D → N in PDS. 1 Publication1
Natural variantiVAR_058581775M → T in PDS and DFNB4. 1 Publication1
Deafness, autosomal recessive, 4 (DFNB4)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600791
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02163928S → R in PDS and DFNB4. 2 PublicationsCorresponds to variant rs539699299dbSNPEnsembl.1
Natural variantiVAR_02164290S → L in DFNB4. 1 PublicationCorresponds to variant rs370588279dbSNPEnsembl.1
Natural variantiVAR_021647117L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 2 PublicationsCorresponds to variant rs145254330dbSNPEnsembl.1
Natural variantiVAR_027238123P → S in DFNB4. 1 Publication1
Natural variantiVAR_021648132T → I in DFNB4. 1 Publication1
Natural variantiVAR_027239147M → V in DFNB4. 1 PublicationCorresponds to variant rs760413427dbSNPEnsembl.1
Natural variantiVAR_007440209G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 8 PublicationsCorresponds to variant rs111033303dbSNPEnsembl.1
Natural variantiVAR_007441236L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant rs80338848dbSNPEnsembl.1
Natural variantiVAR_021653239V → D in PDS and DFNB4. 2 PublicationsCorresponds to variant rs111033256dbSNPEnsembl.1
Natural variantiVAR_021654252S → P in DFNB4. 1 Publication1
Natural variantiVAR_064992281V → I in DFNB4. 1 PublicationCorresponds to variant rs727505080dbSNPEnsembl.1
Natural variantiVAR_021656335F → L in PDS and DFNB4. 3 PublicationsCorresponds to variant rs111033212dbSNPEnsembl.1
Natural variantiVAR_007442369K → E in DFNB4. 1 PublicationCorresponds to variant rs121908361dbSNPEnsembl.1
Natural variantiVAR_007443372A → V in DFNB4. 1 PublicationCorresponds to variant rs121908364dbSNPEnsembl.1
Natural variantiVAR_007444384E → G in PDS and PDS/DFNB4. 4 PublicationsCorresponds to variant rs111033244dbSNPEnsembl.1
Natural variantiVAR_021658392N → Y in DFNB4. 1 PublicationCorresponds to variant rs201562855dbSNPEnsembl.1
Natural variantiVAR_058580402V → M in PDS and DFNB4. 1 PublicationCorresponds to variant rs397516414dbSNPEnsembl.1
Natural variantiVAR_021660409R → P in DFNB4. 1 PublicationCorresponds to variant rs111033305dbSNPEnsembl.1
Natural variantiVAR_021661410T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant rs111033220dbSNPEnsembl.1
Natural variantiVAR_007445416T → P in PDS and DFNB4; common mutation. 8 PublicationsCorresponds to variant rs28939086dbSNPEnsembl.1
Natural variantiVAR_011624445L → W in PDS and DFNB4. 7 PublicationsCorresponds to variant rs111033307dbSNPEnsembl.1
Natural variantiVAR_021665446Q → R in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 2 PublicationsCorresponds to variant rs768471577dbSNPEnsembl.1
Natural variantiVAR_021667457N → K in DFNB4. 1 Publication1
Natural variantiVAR_021669490I → L in DFNB4. 1 PublicationCorresponds to variant rs200511789dbSNPEnsembl.1
Natural variantiVAR_007446497G → S in DFNB4. 1 PublicationCorresponds to variant rs111033308dbSNPEnsembl.1
Natural variantiVAR_027242530Y → S in PDS and DFNB4. 2 PublicationsCorresponds to variant rs747636919dbSNPEnsembl.1
Natural variantiVAR_064993558N → K in DFNB4. 1 Publication1
Natural variantiVAR_027244666S → F in DFNB4. 1 Publication1
Natural variantiVAR_021678676L → Q in DFNB4. 1 PublicationCorresponds to variant rs111033318dbSNPEnsembl.1
Natural variantiVAR_007448721T → M in DFNB4 and PDS. 4 PublicationsCorresponds to variant rs121908363dbSNPEnsembl.1
Natural variantiVAR_007449723H → R in DFNB4 and PDS; common mutation in Korea and Japan. 5 PublicationsCorresponds to variant rs121908362dbSNPEnsembl.1
Natural variantiVAR_058581775M → T in PDS and DFNB4. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi5172.
MalaCardsiSLC26A4.
MIMi274600. phenotype.
600791. phenotype.
OpenTargetsiENSG00000091137.
Orphaneti95713. Athyreosis.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
705. Pendred syndrome.
95720. Thyroid hypoplasia.
PharmGKBiPA35506.

Polymorphism and mutation databases

BioMutaiSLC26A4.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000801641 – 780PendrinAdd BLAST780

Proteomic databases

PaxDbiO43511.
PeptideAtlasiO43511.
PRIDEiO43511.

PTM databases

iPTMnetiO43511.
PhosphoSitePlusiO43511.

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

BgeeiENSG00000091137.
CleanExiHS_SLC26A4.
ExpressionAtlasiO43511. baseline and differential.
GenevisibleiO43511. HS.

Organism-specific databases

HPAiHPA042860.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000265715.

Structurei

3D structure databases

ProteinModelPortaliO43511.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini535 – 729STASPROSITE-ProRule annotationAdd BLAST195

Sequence similaritiesi

Contains 1 STAS domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0236. Eukaryota.
COG0659. LUCA.
GeneTreeiENSGT00760000119026.
HOGENOMiHOG000006546.
HOVERGENiHBG000639.
InParanoidiO43511.
KOiK14702.
OMAiPSWNGLG.
OrthoDBiEOG091G07RT.
PhylomeDBiO43511.
TreeFamiTF313784.

Family and domain databases

Gene3Di3.30.750.24. 2 hits.
InterProiIPR030285. Pendrin.
IPR018045. S04_transporter_CS.
IPR011547. SLC26A/SulP_dom.
IPR001902. SLC26A/SulP_fam.
IPR002645. STAS_dom.
[Graphical view]
PANTHERiPTHR11814. PTHR11814. 2 hits.
PTHR11814:SF33. PTHR11814:SF33. 2 hits.
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. AlignAdd to basket

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

        10         20         30         40         50
MAAPGGRSEP PQLPEYSCSY MVSRPVYSEL AFQQQHERRL QERKTLRESL
60 70 80 90 100
AKCCSCSRKR AFGVLKTLVP ILEWLPKYRV KEWLLSDVIS GVSTGLVATL
110 120 130 140 150
QGMAYALLAA VPVGYGLYSA FFPILTYFIF GTSRHISVGP FPVVSLMVGS
160 170 180 190 200
VVLSMAPDEH FLVSSSNGTV LNTTMIDTAA RDTARVLIAS ALTLLVGIIQ
210 220 230 240 250
LIFGGLQIGF IVRYLADPLV GGFTTAAAFQ VLVSQLKIVL NVSTKNYNGV
260 270 280 290 300
LSIIYTLVEI FQNIGDTNLA DFTAGLLTIV VCMAVKELND RFRHKIPVPI
310 320 330 340 350
PIEVIVTIIA TAISYGANLE KNYNAGIVKS IPRGFLPPEL PPVSLFSEML
360 370 380 390 400
AASFSIAVVA YAIAVSVGKV YATKYDYTID GNQEFIAFGI SNIFSGFFSC
410 420 430 440 450
FVATTALSRT AVQESTGGKT QVAGIISAAI VMIAILALGK LLEPLQKSVL
460 470 480 490 500
AAVVIANLKG MFMQLCDIPR LWRQNKIDAV IWVFTCIVSI ILGLDLGLLA
510 520 530 540 550
GLIFGLLTVV LRVQFPSWNG LGSIPSTDIY KSTKNYKNIE EPQGVKILRF
560 570 580 590 600
SSPIFYGNVD GFKKCIKSTV GFDAIRVYNK RLKALRKIQK LIKSGQLRAT
610 620 630 640 650
KNGIISDAVS TNNAFEPDED IEDLEELDIP TKEIEIQVDW NSELPVKVNV
660 670 680 690 700
PKVPIHSLVL DCGAISFLDV VGVRSLRVIV KEFQRIDVNV YFASLQDYVI
710 720 730 740 750
EKLEQCGFFD DNIRKDTFFL TVHDAILYLQ NQVKSQEGQG SILETITLIQ
760 770 780
DCKDTLELIE TELTEEELDV QDEAMRTLAS
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0649886G → V.1 PublicationCorresponds to variant rs111033423dbSNPEnsembl.1
Natural variantiVAR_02163824R → G in Pendred syndrome/deafness individuals. 1 Publication1
Natural variantiVAR_02163928S → R in PDS and DFNB4. 2 PublicationsCorresponds to variant rs539699299dbSNPEnsembl.1
Natural variantiVAR_02164029E → Q in PDS. 3 PublicationsCorresponds to variant rs111033205dbSNPEnsembl.1
Natural variantiVAR_02164178Y → C in PDS. 2 Publications1
Natural variantiVAR_02164290S → L in DFNB4. 1 PublicationCorresponds to variant rs370588279dbSNPEnsembl.1
Natural variantiVAR_06498999T → M.1 PublicationCorresponds to variant rs141142414dbSNPEnsembl.1
Natural variantiVAR_021643102G → R in PDS; fails to localize to cell membrane; abolishes iodide transport. 1 Publication1
Natural variantiVAR_021644104A → V in Pendred syndrome/deafness individuals. 1 Publication1
Natural variantiVAR_021645105Y → C in PDS. 2 Publications1
Natural variantiVAR_021646106A → D in PDS. 2 Publications1
Natural variantiVAR_021647117L → F in DFNB4 and PDS; does not affect protein localization to cell membrane; does not affect iodide transport. 2 PublicationsCorresponds to variant rs145254330dbSNPEnsembl.1
Natural variantiVAR_027238123P → S in DFNB4. 1 Publication1
Natural variantiVAR_021648132T → I in DFNB4. 1 Publication1
Natural variantiVAR_021649133S → T in PDS. 2 PublicationsCorresponds to variant rs121908365dbSNPEnsembl.1
Natural variantiVAR_021650137S → P in PDS. 1 Publication1
Natural variantiVAR_021651138V → F in PDS; fails to localize to cell membrane; abolishes iodide transport. 9 PublicationsCorresponds to variant rs111033199dbSNPEnsembl.1
Natural variantiVAR_021652139G → A in PDS. 2 Publications1
Natural variantiVAR_064990144V → A Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. 1 PublicationCorresponds to variant rs772023020dbSNPEnsembl.1
Natural variantiVAR_027239147M → V in DFNB4. 1 PublicationCorresponds to variant rs760413427dbSNPEnsembl.1
Natural variantiVAR_064991185R → T Found at heterozygosity in a patient with non-syndromic deafness; uncertain pathological significance. 1 PublicationCorresponds to variant rs542620119dbSNPEnsembl.1
Natural variantiVAR_011623193T → I in PDS. 2 PublicationsCorresponds to variant rs111033348dbSNPEnsembl.1
Natural variantiVAR_007440209G → V in DFNB4 and PDS; severely reduces iodide transport without affecting protein localization to cell membrane. 8 PublicationsCorresponds to variant rs111033303dbSNPEnsembl.1
Natural variantiVAR_007441236L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant rs80338848dbSNPEnsembl.1
Natural variantiVAR_021653239V → D in PDS and DFNB4. 2 PublicationsCorresponds to variant rs111033256dbSNPEnsembl.1
Natural variantiVAR_021654252S → P in DFNB4. 1 Publication1
Natural variantiVAR_021655271D → H in PDS. 2 Publications1
Natural variantiVAR_064992281V → I in DFNB4. 1 PublicationCorresponds to variant rs727505080dbSNPEnsembl.1
Natural variantiVAR_053663301P → L.Corresponds to variant rs34373141dbSNPEnsembl.1
Natural variantiVAR_053664324N → Y.1 PublicationCorresponds to variant rs36039758dbSNPEnsembl.1
Natural variantiVAR_021656335F → L in PDS and DFNB4. 3 PublicationsCorresponds to variant rs111033212dbSNPEnsembl.1
Natural variantiVAR_007442369K → E in DFNB4. 1 PublicationCorresponds to variant rs121908361dbSNPEnsembl.1
Natural variantiVAR_007443372A → V in DFNB4. 1 PublicationCorresponds to variant rs121908364dbSNPEnsembl.1
Natural variantiVAR_007444384E → G in PDS and PDS/DFNB4. 4 PublicationsCorresponds to variant rs111033244dbSNPEnsembl.1
Natural variantiVAR_021657391S → N in PDS. 1 Publication1
Natural variantiVAR_021658392N → Y in DFNB4. 1 PublicationCorresponds to variant rs201562855dbSNPEnsembl.1
Natural variantiVAR_058580402V → M in PDS and DFNB4. 1 PublicationCorresponds to variant rs397516414dbSNPEnsembl.1
Natural variantiVAR_021659409R → H in PDS. 5 PublicationsCorresponds to variant rs111033305dbSNPEnsembl.1
Natural variantiVAR_021660409R → P in DFNB4. 1 PublicationCorresponds to variant rs111033305dbSNPEnsembl.1
Natural variantiVAR_021661410T → M in DFNB4 and PDS; fails to localize to cell membrane; abolishes iodide transport. 8 PublicationsCorresponds to variant rs111033220dbSNPEnsembl.1
Natural variantiVAR_021662411A → P in PDS. 1 Publication1
Natural variantiVAR_007445416T → P in PDS and DFNB4; common mutation. 8 PublicationsCorresponds to variant rs28939086dbSNPEnsembl.1
Natural variantiVAR_021663421Q → R in Pendred syndrome/deafness individuals. 1 PublicationCorresponds to variant rs201660407dbSNPEnsembl.1
Natural variantiVAR_021664429Missing in Pendred syndrome/deafness individuals. 1 Publication1
Natural variantiVAR_011624445L → W in PDS and DFNB4. 7 Publications