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O43511

- S26A4_HUMAN

UniProt

O43511 - S26A4_HUMAN

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Protein

Pendrin

Gene
SLC26A4, PDS
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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; Multi-pass membrane protein Inferred. 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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8787Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei88 – 10821Helical; Reviewed predictionAdd
BLAST
Topological domaini109 – 1091Extracellular Reviewed prediction
Transmembranei110 – 13021Helical; Reviewed predictionAdd
BLAST
Topological domaini131 – 1355Cytoplasmic Reviewed prediction
Transmembranei136 – 15621Helical; Reviewed predictionAdd
BLAST
Topological domaini157 – 19135Extracellular Reviewed predictionAdd
BLAST
Transmembranei192 – 21221Helical; Reviewed predictionAdd
BLAST
Topological domaini213 – 2186Cytoplasmic Reviewed prediction
Transmembranei219 – 23921Helical; Reviewed predictionAdd
BLAST
Topological domaini240 – 26324Extracellular Reviewed predictionAdd
BLAST
Transmembranei264 – 28421Helical; Reviewed predictionAdd
BLAST
Topological domaini285 – 29511Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei296 – 31621Helical; Reviewed predictionAdd
BLAST
Topological domaini317 – 34428Extracellular Reviewed predictionAdd
BLAST
Transmembranei345 – 36521Helical; Reviewed predictionAdd
BLAST
Topological domaini366 – 38419Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei385 – 40521Helical; Reviewed predictionAdd
BLAST
Topological domaini406 – 42116Extracellular Reviewed predictionAdd
BLAST
Transmembranei422 – 44221Helical; Reviewed predictionAdd
BLAST
Topological domaini443 – 4486Cytoplasmic Reviewed prediction
Transmembranei449 – 46921Helical; Reviewed predictionAdd
BLAST
Topological domaini470 – 48617Extracellular Reviewed predictionAdd
BLAST
Transmembranei487 – 50721Helical; Reviewed predictionAdd
BLAST
Topological domaini508 – 780273Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.18 Publications
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. 1 Publication
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. 2 Publications
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. 9 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. 8 Publications
VAR_007440
Natural varianti236 – 2361L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 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. 8 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. 2 Publications
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. 3 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. 4 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.9 Publications
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. 2 Publications
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. 8 Publications
VAR_007440
Natural varianti236 – 2361L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 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. 8 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. 2 Publications
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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini535 – 729195STASAdd
BLAST

Sequence similaritiesi

Contains 1 STAS domain.

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]

Sequencei

Sequence statusi: Complete.

O43511-1 [UniParc]FASTAAdd to Basket

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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

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. 1 Publication
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. 2 Publications
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. 9 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. 8 Publications
VAR_007440
Natural varianti236 – 2361L → P in PDS and DFNB4; common mutation; fails to localize to cell membrane; abolishes iodide transport. 8 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. 8 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. 2 Publications
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 – 5301Y → S in PDS and DFNB4. 2 Publications
VAR_027242
Natural varianti552 – 5521S → I in PDS. 1 Publication
VAR_021671