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O75445

- USH2A_HUMAN

UniProt

O75445 - USH2A_HUMAN

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Protein

Usherin

Gene

USH2A

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

Functioni

Involved in hearing and vision.

GO - Molecular functioni

  1. collagen binding Source: HGNC
  2. myosin binding Source: BHF-UCL

GO - Biological processi

  1. hair cell differentiation Source: BHF-UCL
  2. inner ear receptor cell differentiation Source: BHF-UCL
  3. maintenance of organ identity Source: HGNC
  4. photoreceptor cell maintenance Source: HGNC
  5. response to stimulus Source: UniProtKB-KW
  6. sensory perception of light stimulus Source: HGNC
  7. sensory perception of sound Source: HGNC
  8. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Hearing, Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Usherin
Alternative name(s):
Usher syndrome type IIa protein
Usher syndrome type-2A protein
Gene namesi
Name:USH2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:12601. USH2A.

Subcellular locationi

Cell projectionstereocilium membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Note: Probable component of the interstereocilia ankle links in the inner ear sensory cells.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini32 – 50425011ExtracellularSequence AnalysisAdd
BLAST
Transmembranei5043 – 506321HelicalSequence AnalysisAdd
BLAST
Topological domaini5064 – 5202139CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: BHF-UCL
  2. basement membrane Source: HGNC
  3. cytoplasm Source: HGNC
  4. integral component of membrane Source: UniProtKB-KW
  5. stereocilia ankle link complex Source: BHF-UCL
  6. stereocilium bundle Source: BHF-UCL
  7. stereocilium membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 2A (USH2A) [MIM:276901]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.16 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti163 – 1631C → Y in USH2A. 2 Publications
VAR_025761
Natural varianti218 – 2181V → E in USH2A. 2 Publications
VAR_025762
Natural varianti230 – 2301V → M in USH2A; may be a common polymorphism. 4 Publications
Corresponds to variant rs45500891 [ dbSNP | Ensembl ].
VAR_025763
Natural varianti268 – 2681G → R in USH2A; unknown pathological significance. 2 Publications
VAR_054557
Natural varianti280 – 2801L → F in USH2A. 1 Publication
VAR_054558
Natural varianti284 – 2841E → K in USH2A. 1 Publication
VAR_054559
Natural varianti303 – 3031R → C in USH2A. 1 Publication
VAR_054560
Natural varianti303 – 3031R → S in USH2A. 1 Publication
VAR_054561
Natural varianti307 – 3071S → I in USH2A; unknown pathological significance. 1 Publication
VAR_054562
Natural varianti319 – 3191C → Y in USH2A. 1 Publication
VAR_025764
Natural varianti334 – 3341R → Q in USH2A. 1 Publication
VAR_054563
Natural varianti334 – 3341R → W in USH2A. 4 Publications
VAR_025765
Natural varianti346 – 3461N → H in USH2A. 5 Publications
VAR_025766
Natural varianti352 – 3521T → I in USH2A. 2 Publications
VAR_054564
Natural varianti357 – 3571N → T in USH2A. 1 Publication
VAR_054565
Natural varianti391 – 3911S → I in USH2A; unknown pathological significance. 1 Publication
VAR_054567
Natural varianti419 – 4191C → F in USH2A and RP39. 4 Publications
VAR_025767
Natural varianti464 – 4641R → C in USH2A; unknown pathological significance. 1 Publication
VAR_054568
Natural varianti478 – 4781E → D in RP39 and USH2A; unknown pathological significance. 5 Publications
Corresponds to variant rs35730265 [ dbSNP | Ensembl ].
VAR_025768
Natural varianti516 – 5161G → V in USH2A; unknown pathological significance.
VAR_054570
Natural varianti517 – 5171R → T in USH2A; unknown pathological significance. 1 Publication
VAR_054571
Natural varianti536 – 5361C → R in USH2A; abolishes interaction with collagen IV. 3 Publications
VAR_025769
Natural varianti555 – 5551L → V in USH2A. 1 Publication
Corresponds to variant rs35818432 [ dbSNP | Ensembl ].
VAR_025770
Natural varianti575 – 5751C → S in USH2A; unknown pathological significance. 1 Publication
VAR_054572
Natural varianti587 – 5871Missing in USH2A; unknown pathological significance. 1 Publication
VAR_054573
Natural varianti610 – 6101H → P in USH2A. 1 Publication
VAR_025771
Natural varianti713 – 7131G → R in USH2A; abolishes interaction with collagen IV; unknown pathological significance. 7 Publications
Corresponds to variant rs696723 [ dbSNP | Ensembl ].
VAR_025774
Natural varianti759 – 7591C → F in RP39 and USH2A. 9 Publications
Corresponds to variant rs80338902 [ dbSNP | Ensembl ].
VAR_025775
Natural varianti761 – 7611P → R in USH2A. 1 Publication
VAR_025776
Natural varianti1059 – 10591P → L in USH2A; unknown pathological significance. 1 Publication
VAR_054578
Natural varianti1212 – 12121P → L in USH2A. 1 Publication
VAR_054579
Natural varianti1515 – 15151T → M in USH2A. 1 Publication
VAR_025779
Natural varianti1833 – 18331V → E in USH2A. 1 Publication
VAR_054584
Natural varianti2249 – 22491A → D in USH2A. 1 Publication
VAR_054588
Natural varianti2265 – 22662EY → D in USH2A.
VAR_054589
Natural varianti2354 – 23541R → H in USH2A. 1 Publication
VAR_054591
Natural varianti2795 – 27951A → S in USH2A. 1 Publication
VAR_054593
Natural varianti3124 – 31241R → G in USH2A; unknown pathological significance. 1 Publication
VAR_054597
Natural varianti3251 – 32511C → R in USH2A. 1 Publication
VAR_054598
Natural varianti3267 – 32671C → R in USH2A. 1 Publication
VAR_054599
Natural varianti3282 – 32821C → R in USH2A. 1 Publication
VAR_054600
Natural varianti3472 – 34721Y → YY in USH2A. 1 Publication
VAR_054601
Natural varianti3504 – 35041P → T in USH2A. 1 Publication
VAR_054602
Natural varianti3521 – 35211W → R in USH2A. 1 Publication
VAR_054603
Natural varianti3571 – 35711T → M in USH2A. 2 Publications
VAR_054604
Natural varianti3895 – 38951G → E in USH2A. 1 Publication
VAR_054608
Natural varianti3976 – 39761T → M in USH2A. 1 Publication
VAR_054609
Natural varianti4054 – 40541S → I in USH2A. 1 Publication
VAR_054610
Natural varianti4115 – 41151R → C in USH2A and RP39; associated with M-4425. 4 Publications
VAR_025780
Natural varianti4232 – 42321P → R in USH2A. 1 Publication
VAR_054611
Natural varianti4337 – 43371T → M in USH2A. 1 Publication
VAR_054612
Natural varianti4425 – 44251T → M in USH2Aand RP39; associated with C-4115. 3 Publications
Corresponds to variant rs201238640 [ dbSNP | Ensembl ].
VAR_025781
Natural varianti4439 – 44391T → I in USH2A. 2 Publications
VAR_054614
Natural varianti4487 – 44871Y → C in USH2A. 1 Publication
VAR_054615
Natural varianti4592 – 45921Q → H in USH2A. 1 Publication
VAR_054616
Natural varianti4795 – 47951L → R in USH2A. 1 Publication
VAR_054618
Natural varianti4818 – 48181P → L in USH2A. 1 Publication
Corresponds to variant rs143344549 [ dbSNP | Ensembl ].
VAR_054619
Retinitis pigmentosa 39 (RP39) [MIM:613809]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.7 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti419 – 4191C → F in USH2A and RP39. 4 Publications
VAR_025767
Natural varianti478 – 4781E → D in RP39 and USH2A; unknown pathological significance. 5 Publications
Corresponds to variant rs35730265 [ dbSNP | Ensembl ].
VAR_025768
Natural varianti739 – 7391F → L in RP39; unknown pathological significance. 1 Publication
VAR_054575
Natural varianti759 – 7591C → F in RP39 and USH2A. 9 Publications
Corresponds to variant rs80338902 [ dbSNP | Ensembl ].
VAR_025775
Natural varianti911 – 9111T → N in RP39; unknown pathological significance. 1 Publication
VAR_054576
Natural varianti1470 – 14701L → R in RP39; unknown pathological significance. 1 Publication
VAR_054581
Natural varianti1859 – 18591F → C in RP39. 1 Publication
VAR_068354
Natural varianti2460 – 24601R → H in RP39. 1 Publication
VAR_068355
Natural varianti3358 – 33581C → Y in RP39. 1 Publication
VAR_068356
Natural varianti3669 – 36691S → R in RP39. 1 Publication
VAR_068357
Natural varianti4115 – 41151R → C in USH2A and RP39; associated with M-4425. 4 Publications
VAR_025780
Natural varianti4192 – 41921R → H in RP39. 1 Publication
Corresponds to variant rs199605265 [ dbSNP | Ensembl ].
VAR_068358
Natural varianti4425 – 44251T → M in USH2Aand RP39; associated with C-4115. 3 Publications
Corresponds to variant rs201238640 [ dbSNP | Ensembl ].
VAR_025781
Natural varianti4674 – 46741R → G in RP39. 1 Publication
VAR_038369

Keywords - Diseasei

Deafness, Disease mutation, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

MIMi276901. phenotype.
613809. phenotype.
Orphaneti791. Retinitis pigmentosa.
231178. Usher syndrome type 2.
PharmGKBiPA37228.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3131Sequence AnalysisAdd
BLAST
Chaini32 – 52025171UsherinPRO_0000229804Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi361 – 3611N-linked (GlcNAc...)Sequence Analysis
Glycosylationi451 – 4511N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi518 ↔ 527By similarity
Disulfide bondi520 ↔ 536By similarity
Disulfide bondi538 ↔ 549By similarity
Disulfide bondi552 ↔ 572By similarity
Disulfide bondi575 ↔ 584By similarity
Disulfide bondi577 ↔ 605By similarity
Glycosylationi587 – 5871N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi608 ↔ 617By similarity
Glycosylationi611 – 6111N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi620 ↔ 638By similarity
Disulfide bondi641 ↔ 655By similarity
Disulfide bondi643 ↔ 662By similarity
Glycosylationi650 – 6501N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi664 ↔ 673By similarity
Disulfide bondi676 ↔ 691By similarity
Disulfide bondi694 ↔ 708By similarity
Disulfide bondi696 ↔ 715By similarity
Glycosylationi697 – 6971N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi717 ↔ 726By similarity
Disulfide bondi729 ↔ 744By similarity
Disulfide bondi747 ↔ 759By similarity
Disulfide bondi749 ↔ 766By similarity
Disulfide bondi768 ↔ 777By similarity
Disulfide bondi780 ↔ 792By similarity
Disulfide bondi795 ↔ 808By similarity
Disulfide bondi797 ↔ 815By similarity
Disulfide bondi817 ↔ 826By similarity
Disulfide bondi829 ↔ 844By similarity
Glycosylationi839 – 8391N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi847 ↔ 861By similarity
Disulfide bondi849 ↔ 868By similarity
Glycosylationi856 – 8561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi862 – 8621N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi870 ↔ 879By similarity
Disulfide bondi882 ↔ 897By similarity
Glycosylationi888 – 8881N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi900 ↔ 913By similarity
Disulfide bondi902 ↔ 920By similarity
Disulfide bondi922 ↔ 931By similarity
Disulfide bondi934 ↔ 948By similarity
Glycosylationi944 – 9441N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi951 ↔ 963By similarity
Disulfide bondi953 ↔ 970By similarity
Disulfide bondi972 ↔ 982By similarity
Disulfide bondi985 ↔ 999By similarity
Disulfide bondi1002 ↔ 1014By similarity
Disulfide bondi1004 ↔ 1021By similarity
Glycosylationi1011 – 10111N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1023 ↔ 1032By similarity
Disulfide bondi1035 ↔ 1050By similarity
Glycosylationi1071 – 10711N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1151 – 11511N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1174 – 11741N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1379 – 13791N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1388 – 13881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1479 – 14791N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1635 – 16351N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1672 ↔ 1709By similarity
Glycosylationi1779 – 17791N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi1862 ↔ 1891By similarity
Glycosylationi1903 – 19031N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2011 – 20111N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2014 – 20141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2048 – 20481N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2130 – 21301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2182 – 21821N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2195 – 21951N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2258 – 22581N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2285 – 22851N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2322 – 23221N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2377 – 23771N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2382 – 23821N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2407 – 24071N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2413 – 24131N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2581 – 25811N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2584 – 25841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2656 – 26561N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2710 – 27101N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2770 – 27701N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2788 – 27881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2930 – 29301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2937 – 29371N-linked (GlcNAc...)Sequence Analysis
Glycosylationi2970 – 29701N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3032 – 30321N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3099 – 30991N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3217 – 32171N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3330 – 33301N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi3371 ↔ 3444By similarity
Disulfide bondi3399 ↔ 3425By similarity
Glycosylationi3419 – 34191N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3433 – 34331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3653 – 36531N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3694 – 36941N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3733 – 37331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3780 – 37801N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3849 – 38491N-linked (GlcNAc...)Sequence Analysis
Glycosylationi3984 – 39841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4202 – 42021N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4226 – 42261N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4317 – 43171N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4418 – 44181N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4564 – 45641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4583 – 45831N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4691 – 46911N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4754 – 47541N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4800 – 48001N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4943 – 49431N-linked (GlcNAc...)Sequence Analysis
Glycosylationi4950 – 49501N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiO75445.
PRIDEiO75445.

PTM databases

PhosphoSiteiO75445.

Expressioni

Tissue specificityi

Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea.4 Publications

Gene expression databases

BgeeiO75445.
CleanExiHS_USH2A.
GenevestigatoriO75445.

Interactioni

Subunit structurei

Interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane. Interacts with USH1C and WHRN. Interacts with NINL. Interacts with PDZD7.6 Publications

Protein-protein interaction databases

BioGridi113242. 1 interaction.
STRINGi9606.ENSP00000305941.

Structurei

3D structure databases

ProteinModelPortaliO75445.
SMRiO75445. Positions 326-1052, 1522-1903, 2500-2718, 3415-3574, 3729-4057, 4262-4675.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini271 – 517247Laminin N-terminalPROSITE-ProRule annotationAdd
BLAST
Domaini518 – 57457Laminin EGF-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini575 – 64066Laminin EGF-like 2PROSITE-ProRule annotationAdd
BLAST
Domaini641 – 69353Laminin EGF-like 3PROSITE-ProRule annotationAdd
BLAST
Domaini694 – 74653Laminin EGF-like 4PROSITE-ProRule annotationAdd
BLAST
Domaini747 – 79448Laminin EGF-like 5PROSITE-ProRule annotationAdd
BLAST
Domaini795 – 84652Laminin EGF-like 6PROSITE-ProRule annotationAdd
BLAST
Domaini847 – 89953Laminin EGF-like 7PROSITE-ProRule annotationAdd
BLAST
Domaini900 – 95051Laminin EGF-like 8PROSITE-ProRule annotationAdd
BLAST
Domaini951 – 100151Laminin EGF-like 9PROSITE-ProRule annotationAdd
BLAST
Domaini1002 – 105251Laminin EGF-like 10PROSITE-ProRule annotationAdd
BLAST
Domaini1058 – 114689Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini1148 – 124497Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini1245 – 1363119Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST
Domaini1364 – 1468105Fibronectin type-III 4PROSITE-ProRule annotationAdd
BLAST
Domaini1517 – 1709193Laminin G-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini1714 – 1891178Laminin G-like 2PROSITE-ProRule annotationAdd
BLAST
Domaini1869 – 195587Fibronectin type-III 5PROSITE-ProRule annotationAdd
BLAST
Domaini1957 – 205498Fibronectin type-III 6PROSITE-ProRule annotationAdd
BLAST
Domaini2055 – 214490Fibronectin type-III 7PROSITE-ProRule annotationAdd
BLAST
Domaini2145 – 223995Fibronectin type-III 8PROSITE-ProRule annotationAdd
BLAST
Domaini2243 – 233088Fibronectin type-III 9PROSITE-ProRule annotationAdd
BLAST
Domaini2331 – 2433103Fibronectin type-III 10PROSITE-ProRule annotationAdd
BLAST
Domaini2437 – 253195Fibronectin type-III 11PROSITE-ProRule annotationAdd
BLAST
Domaini2535 – 262288Fibronectin type-III 12PROSITE-ProRule annotationAdd
BLAST
Domaini2624 – 272299Fibronectin type-III 13PROSITE-ProRule annotationAdd
BLAST
Domaini2726 – 281994Fibronectin type-III 14PROSITE-ProRule annotationAdd
BLAST
Domaini2820 – 2923104Fibronectin type-III 15PROSITE-ProRule annotationAdd
BLAST
Domaini2927 – 301892Fibronectin type-III 16PROSITE-ProRule annotationAdd
BLAST
Domaini3022 – 311291Fibronectin type-III 17PROSITE-ProRule annotationAdd
BLAST
Domaini3113 – 320997Fibronectin type-III 18PROSITE-ProRule annotationAdd
BLAST
Domaini3403 – 349795Fibronectin type-III 19PROSITE-ProRule annotationAdd
BLAST
Domaini3501 – 358989Fibronectin type-III 20PROSITE-ProRule annotationAdd
BLAST
Domaini3592 – 368291Fibronectin type-III 21PROSITE-ProRule annotationAdd
BLAST
Domaini3684 – 377087Fibronectin type-III 22PROSITE-ProRule annotationAdd
BLAST
Domaini3774 – 386592Fibronectin type-III 23PROSITE-ProRule annotationAdd
BLAST
Domaini3866 – 396398Fibronectin type-III 24PROSITE-ProRule annotationAdd
BLAST
Domaini3964 – 4067104Fibronectin type-III 25PROSITE-ProRule annotationAdd
BLAST
Domaini4068 – 415386Fibronectin type-III 26PROSITE-ProRule annotationAdd
BLAST
Domaini4157 – 4261105Fibronectin type-III 27PROSITE-ProRule annotationAdd
BLAST
Domaini4262 – 435796Fibronectin type-III 28PROSITE-ProRule annotationAdd
BLAST
Domaini4358 – 444588Fibronectin type-III 29PROSITE-ProRule annotationAdd
BLAST
Domaini4446 – 453085Fibronectin type-III 30PROSITE-ProRule annotationAdd
BLAST
Domaini4534 – 463097Fibronectin type-III 31PROSITE-ProRule annotationAdd
BLAST
Domaini4636 – 473398Fibronectin type-III 32PROSITE-ProRule annotationAdd
BLAST
Domaini4734 – 482794Fibronectin type-III 33PROSITE-ProRule annotationAdd
BLAST
Domaini4828 – 4927100Fibronectin type-III 34PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi5200 – 52023PDZ-binding

Domaini

The PDZ-binding motif probably mediates the association with some of the PDZ domains of USH1C and WHRN.By similarity

Sequence similaritiesi

Contains 35 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 10 laminin EGF-like domains.PROSITE-ProRule annotation
Contains 2 laminin G-like domains.PROSITE-ProRule annotation
Contains 1 laminin N-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

Laminin EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG245744.
GeneTreeiENSGT00770000120550.
HOGENOMiHOG000124780.
HOVERGENiHBG094138.
InParanoidiO75445.
OMAiEIRIQAC.
OrthoDBiEOG783MTD.
PhylomeDBiO75445.
TreeFamiTF330287.

Family and domain databases

Gene3Di2.60.120.200. 3 hits.
2.60.40.10. 35 hits.
InterProiIPR013320. ConA-like_dom.
IPR002049. EGF_laminin.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR006558. LamG-like.
IPR001791. Laminin_G.
IPR008211. Laminin_N.
IPR026915. USH2A.
[Graphical view]
PANTHERiPTHR10574:SF170. PTHR10574:SF170. 1 hit.
PfamiPF00041. fn3. 20 hits.
PF00053. Laminin_EGF. 10 hits.
PF02210. Laminin_G_2. 2 hits.
PF00055. Laminin_N. 1 hit.
[Graphical view]
SMARTiSM00180. EGF_Lam. 10 hits.
SM00060. FN3. 33 hits.
SM00282. LamG. 2 hits.
SM00560. LamGL. 1 hit.
SM00136. LamNT. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 23 hits.
SSF49899. SSF49899. 3 hits.
PROSITEiPS00022. EGF_1. 7 hits.
PS01248. EGF_LAM_1. 7 hits.
PS50027. EGF_LAM_2. 10 hits.
PS50853. FN3. 35 hits.
PS50025. LAM_G_DOMAIN. 2 hits.
PS51117. LAMININ_NTER. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O75445-1) [UniParc]FASTAAdd to Basket

Also known as: b

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
MNCPVLSLGS GFLFQVIEML IFAYFASISL TESRGLFPRL ENVGAFKKVS
60 70 80 90 100
IVPTQAVCGL PDRSTFCHSS AAAESIQFCT QRFCIQDCPY RSSHPTYTAL
110 120 130 140 150
FSAGLSSCIT PDKNDLHPNA HSNSASFIFG NHKSCFSSPP SPKLMASFTL
160 170 180 190 200
AVWLKPEQQG VMCVIEKTVD GQIVFKLTIS EKETMFYYRT VNGLQPPIKV
210 220 230 240 250
MTLGRILVKK WIHLSVQVHQ TKISFFINGV EKDHTPFNAR TLSGSITDFA
260 270 280 290 300
SGTVQIGQSL NGLEQFVGRM QDFRLYQVAL TNREILEVFS GDLLRLHAQS
310 320 330 340 350
HCRCPGSHPR VHPLAQRYCI PNDAGDTADN RVSRLNPEAH PLSFVNDNDV
360 370 380 390 400
GTSWVSNVFT NITQLNQGVT ISVDLENGQY QVFYIIIQFF SPQPTEIRIQ
410 420 430 440 450
RKKENSLDWE DWQYFARNCG AFGMKNNGDL EKPDSVNCLQ LSNFTPYSRG
460 470 480 490 500
NVTFSILTPG PNYRPGYNNF YNTPSLQEFV KATQIRFHFH GQYYTTETAV
510 520 530 540 550
NLRHRYYAVD EITISGRCQC HGHADNCDTT SQPYRCLCSQ ESFTEGLHCD
560 570 580 590 600
RCLPLYNDKP FRQGDQVYAF NCKPCQCNSH SKSCHYNISV DPFPFEHFRG
610 620 630 640 650
GGGVCDDCEH NTTGRNCELC KDYFFRQVGA DPSAIDVCKP CDCDTVGTRN
660 670 680 690 700
GSILCDQIGG QCNCKRHVSG RQCNQCQNGF YNLQELDPDG CSPCNCNTSG
710 720 730 740 750
TVDGDITCHQ NSGQCKCKAN VIGLRCDHCN FGFKFLRSFN DVGCEPCQCN
760 770 780 790 800
LHGSVNKFCN PHSGQCECKK EAKGLQCDTC RENFYGLDVT NCKACDCDTA
810 820 830 840 850
GSLPGTVCNA KTGQCICKPN VEGRQCNKCL EGNFYLRQNN SFLCLPCNCD
860 870 880 890 900
KTGTINGSLL CNKSTGQCPC KLGVTGLRCN QCEPHRYNLT IDNFQHCQMC
910 920 930 940 950
ECDSLGTLPG TICDPISGQC LCVPNRQGRR CNQCQPGFYI SPGNATGCLP
960 970 980 990 1000
CSCHTTGAVN HICNSLTGQC VCQDASIAGQ RCDQCKDHYF GFDPQTGRCQ
1010 1020 1030 1040 1050
PCNCHLSGAL NETCHLVTGQ CFCKQFVTGS KCDACVPSAS HLDVNNLLGC
1060 1070 1080 1090 1100
SKTPFQQPPP RGQVQSSSAI NLSWSPPDSP NAHWLTYSLL RDGFEIYTTE
1110 1120 1130 1140 1150
DQYPYSIQYF LDTDLLPYTK YSYYIETTNV HGSTRSVAVT YKTKPGVPEG
1160 1170 1180 1190 1200
NLTLSYIIPI GSDSVTLTWT TLSNQSGPIE KYILSCAPLA GGQPCVSYEG
1210 1220 1230 1240 1250
HETSATIWNL VPFAKYDFSV QACTSGGCLH SLPITVTTAQ APPQRLSPPK
1260 1270 1280 1290 1300
MQKISSTELH VEWSPPAELN GIIIRYELYM RRLRSTKETT SEESRVFQSS
1310 1320 1330 1340 1350
GWLSPHSFVE SANENALKPP QTMTTITGLE PYTKYEFRVL AVNMAGSVSS
1360 1370 1380 1390 1400
AWVSERTGES APVFMIPPSV FPLSSYSLNI SWEKPADNVT RGKVVGYDIN
1410 1420 1430 1440 1450
MLSEQSPQQS IPMAFSQLLH TAKSQELSYT VEGLKPYRIY EFTITLCNSV
1460 1470 1480 1490 1500
GCVTSASGAG QTLAAAPAQL RPPLVKGINS TTIHLRWFPP EELNGPSPIY
1510 1520 1530 1540 1550
QLERRESSLP ALMTTMMKGI RFIGNGYCKF PSSTHPVNTD FTGIKASFRT
1560 1570 1580 1590 1600
KVPEGLIVFA ASPGNQEEYF ALQLKKGRLY FLFDPQGSPV EVTTTNDHGK
1610 1620 1630 1640 1650
QYSDGKWHEI IAIRHQAFGQ ITLDGIYTGS SAILNGSTVI GDNTGVFLGG
1660 1670 1680 1690 1700
LPRSYTILRK DPEIIQKGFV GCLKDVHFMK NYNPSAIWEP LDWQSSEEQI
1710 1720 1730 1740 1750
NVYNSWEGCP ASLNEGAQFL GAGFLELHPY MFHGGMNFEI SFKFRTDQLN
1760 1770 1780 1790 1800
GLLLFVYNKD GPDFLAMELK SGILTFRLNT SLAFTQVDLL LGLSYCNGKW
1810 1820 1830 1840 1850
NKVIIKKEGS FISASVNGLM KHASESGDQP LVVNSPVYVG GIPQELLNSY
1860 1870 1880 1890 1900
QHLCLEQGFG GCMKDVKFTR GAVVNLASVS SGAVRVNLDG CLSTDSAVNC
1910 1920 1930 1940 1950
RGNDSILVYQ GKEQSVYEGG LQPFTEYLYR VIASHEGGSV YSDWSRGRTT
1960 1970 1980 1990 2000
GAAPQSVPTP SRVRSLNGYS IEVTWDEPVV RGVIEKYILK AYSEDSTRPP
2010 2020 2030 2040 2050
RMPSASAEFV NTSNLTGILT GLLPFKNYAV TLTACTLAGC TESSHALNIS
2060 2070 2080 2090 2100
TPQEAPQEVQ PPVAKSLPSS LLLSWNPPKK ANGIITQYCL YMDGRLIYSG
2110 2120 2130 2140 2150
SEENYIVTDL AVFTPHQFLL SACTHVGCTN SSWVLLYTAQ LPPEHVDSPV
2160 2170 2180 2190 2200
LTVLDSRTIH IQWKQPRKIS GILERYVLYM SNHTHDFTIW SVIYNSTELF
2210 2220 2230 2240 2250
QDHMLQYVLP GNKYLIKLGA CTGGGCTVSE ASEALTDEDI PEGVPAPKAH
2260 2270 2280 2290 2300
SYSPDSFNVS WTEPEYPNGV ITSYGLYLDG ILIHNSSELS YRAYGFAPWS
2310 2320 2330 2340 2350
LHSFRVQACT AKGCALGPLV ENRTLEAPPE GTVNVFVKTQ GSRKAHVRWE
2360 2370 2380 2390 2400
APFRPNGLLT HSVLFTGIFY VDPVGNNYTL LNVTKVMYSG EETNLWVLID
2410 2420 2430 2440 2450
GLVPFTNYTV QVNISNSQGS LITDPITIAM PPGAPDGVLP PRLSSATPTS
2460 2470 2480 2490 2500
LQVVWSTPAR NNAPGSPRYQ LQMRSGDSTH GFLELFSNPS ASLSYEVSDL
2510 2520 2530 2540 2550
QPYTEYMFRL VASNGFGSAH SSWIPFMTAE DKPGPVVPPI LLDVKSRMML
2560 2570 2580 2590 2600
VTWQHPRKSN GVITHYNIYL HGRLYLRTPG NVTNCTVMHL HPYTAYKFQV
2610 2620 2630 2640 2650
EACTSKGCSL SPESQTVWTL PGAPEGIPSP ELFSDTPTSV IISWQPPTHP
2660 2670 2680 2690 2700
NGLVENFTIE RRVKGKEEVT TLVTLPRSHS MRFIDKTSAL SPWTKYEYRV
2710 2720 2730 2740 2750
LMSTLHGGTN SSAWVEVTTR PSRPAGVQPP VVTVLEPDAV QVTWKPPLIQ
2760 2770 2780 2790 2800
NGDILSYEIH MPDPHITLTN VTSAVLSQKV THLIPFTNYS VTIVACSGGN
2810 2820 2830 2840 2850
GYLGGCTESL PTYVTTHPTV PQNVGPLSVI PLSESYVVIS WQPPSKPNGP
2860 2870 2880 2890 2900
NLRYELLRRK IQQPLASNPP EDLNRWHNIY SGTQWLYEDK GLSRFTTYEY
2910 2920 2930 2940 2950
MLFVHNSVGF TPSREVTVTT LAGLPERGAN LTASVLNHTA IDVRWAKPTV
2960 2970 2980 2990 3000
QDLQGEVEYY TLFWSSATSN DSLKILPDVN SHVIGHLKPN TEYWIFISVF
3010 3020 3030 3040 3050
NGVHSINSAG LHATTCDGEP QGMLPPEVVI INSTAVRVIW TSPSNPNGVV
3060 3070 3080 3090 3100
TEYSIYVNNK LYKTGMNVPG SFILRDLSPF TIYDIQVEVC TIYACVKSNG
3110 3120 3130 3140 3150
TQITTVEDTP SDIPTPTIRG ITSRSLQIDW VSPRKPNGII LGYDLLWKTW
3160 3170 3180 3190 3200
YPCAKTQKLV QDQSDELCKA VRCQKPESIC GHICYSSEAK VCCNGVLYNP
3210 3220 3230 3240 3250
KPGHRCCEEK YIPFVLNSTG VCCGGRIQEA QPNHQCCSGY YARILPGEVC
3260 3270 3280 3290 3300
CPDEQHNRVS VGIGDSCCGR MPYSTSGNQI CCAGRLHDGH GQKCCGRQIV
3310 3320 3330 3340 3350
SNDLECCGGE EGVVYNRLPG MFCCGQDYVN MSDTICCSAS SGESKAHIKK
3360 3370 3380 3390 3400
NDPVPVKCCE TELIPKSQKC CNGVGYNPLK YVCSDKISTG MMMKETKECR
3410 3420 3430 3440 3450
ILCPASMEAT EHCGRCDFNF TSHICTVIRG SHNSTGKASI EEMCSSAEET
3460 3470 3480 3490 3500
IHTGSVNTYS YTDVNLKPYM TYEYRISAWN SYGRGLSKAV RARTKEDVPQ
3510 3520 3530 3540 3550
GVSPPTWTKI DNLEDTIVLN WRKPIQSNGP IIYYILLRNG IERFRGTSLS
3560 3570 3580 3590 3600
FSDKEGIQPF QEYSYQLKAC TVAGCATSSK VVAATTQGVP ESILPPSITA
3610 3620 3630 3640 3650
LSAVALHLSW SVPEKSNGVI KEYQIRQVGK GLIHTDTTDR RQHTVTGLQP
3660 3670 3680 3690 3700
YTNYSFTLTA CTSAGCTSSE PFLGQTLQAA PEGVWVTPRH IIINSTTVEL
3710 3720 3730 3740 3750
YWSLPEKPNG LVSQYQLSRN GNLLFLGGSE EQNFTDKNLE PNSRYTYKLE
3760 3770 3780 3790 3800
VKTGGGSSAS DDYIVQTPMS TPEEIYPPYN ITVIGPYSIF VAWIPPGILI
3810 3820 3830 3840 3850
PEIPVEYNVL LNDGSVTPLA FSVGHHQSTL LENLTPFTQY EIRIQACQNG
3860 3870 3880 3890 3900
SCGVSSRMFV KTPEAAPMDL NSPVLKALGS ACIEIKWMPP EKPNGIIINY
3910 3920 3930 3940 3950
FIYRRPAGIE EESVLFVWSE GALEFMDEGD TLRPFTLYEY RVRACNSKGS
3960 3970 3980 3990 4000
VESLWSLTQT LEAPPQDFPA PWAQATSAHS VLLNWTKPES PNGIISHYRV
4010 4020 4030 4040 4050
VYQERPDDPT FNSPTVHAFT VKGTSHQAHL YGLEPFTTYR IGVVAANHAG
4060 4070 4080 4090 4100
EILSPWTLIQ TLESSPSGLR NFIVEQKENG RALLLQWSEP MRTNGVIKTY
4110 4120 4130 4140 4150
NIFSDGFLEY SGLNRQFLFR RLDPFTLYTL TLEACTRAGC AHSAPQPLWT
4160 4170 4180 4190 4200
DEAPPDSQLA PTVHSVKSTS VELSWSEPVN PNGKIIRYEV IRRCFEGKAW
4210 4220 4230 4240 4250
GNQTIQADEK IVFTEYNTER NTFMYNDTGL QPWTQCEYKI YTWNSAGHTC
4260 4270 4280 4290 4300
SSWNVVRTLQ APPEGLSPPV ISYVSMNPQK LLISWIPPEQ SNGIIQSYRL
4310 4320 4330 4340 4350
QRNEMLYPFS FDPVTFNYTD EELLPFSTYS YALQACTSGG CSTSKPTSIT
4360 4370 4380 4390 4400
TLEAAPSEVS PPDLWAVSAT QMNVCWSPPT VQNGKITKYL VRYDNKESLA
4410 4420 4430 4440 4450
GQGLCLLVSH LQPYSQYNFS LVACTNGGCT ASVSKSAWTM EALPENMDSP
4460 4470 4480 4490 4500
TLQVTGSESI EITWKPPRNP NGQIRSYELR RDGTIVYTGL ETRYRDFTLT
4510 4520 4530 4540 4550
PGVEYSYTVT ASNSQGGILS PLVKDRTSPS APSGMEPPKL QARGPQEILV
4560 4570 4580 4590 4600
NWDPPVRTNG DIINYTLFIR ELFERETKII HINTTHNSFG MQSYIVNQLK
4610 4620 4630 4640 4650
PFHRYEIRIQ ACTTLGCASS DWTFIQTPEI APLMQPPPHL EVQMAPGGFQ
4660 4670 4680 4690 4700
PTVSLLWTGP LQPNGKVLYY ELYRRQIATQ PRKSNPVLIY NGSSTSFIDS
4710 4720 4730 4740 4750
ELLPFTEYEY QVWAVNSAGK APSSWTWCRT GPAPPEGLRA PTFHVISSTQ
4760 4770 4780 4790 4800
AVVNISAPGK PNGIVSLYRL FSSSAHGAET VLSEGMATQQ TLHGLQAFTN
4810 4820 4830 4840 4850
YSIGVEACTC FNCCSKGPTA ELRTHPAPPS GLSSPQIGTL ASRTASFRWS
4860 4870 4880 4890 4900
PPMFPNGVIH SYELQFHVAC PPDSALPCTP SQIETKYTGL GQKASLGGLQ
4910 4920 4930 4940 4950
PYTTYKLRVV AHNEVGSTAS EWISFTTQKE LPQYRAPFSV DSNLSVVCVN
4960 4970 4980 4990 5000
WSDTFLLNGQ LKEYVLTDGG RRVYSGLDTT LYIPRTADKT FFFQVICTTD
5010 5020 5030 5040 5050
EGSVKTPLIQ YDTSTGLGLV LTTPGKKKGS RSKSTEFYSE LWFIVLMAML
5060 5070 5080 5090 5100
GLILLAIFLS LILQRKIHKE PYIRERPPLV PLQKRMSPLN VYPPGENHMG
5110 5120 5130 5140 5150
LADTKIPRSG TPVSIRSNRS ACVLRIPSQN QTSLTYSQGS LHRSVSQLMD
5160 5170 5180 5190 5200
IQDKKVLMDN SLWEAIMGHN SGLYVDEEDL MNAIKDFSSV TKERTTFTDT

HL
Length:5,202
Mass (Da):575,600
Last modified:April 4, 2006 - v3
Checksum:i06A123CA9C0F7F1D
GO
Isoform 2 (identifier: O75445-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1544-1546: IKA → KCV
     1547-5202: Missing.

Show »
Length:1,546
Mass (Da):171,074
Checksum:i434CD024FE19C0D6
GO
Isoform 3 (identifier: O75445-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     5099-5099: M → MFDSVADISDVSSNVTLKSYTMHFE

Show »
Length:5,226
Mass (Da):578,275
Checksum:i9E201BC41FA9FC0E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti237 – 2371F → C in AAC23748. (PubMed:9624053)Curated
Sequence conflicti237 – 2371F → C in AAF75819. (PubMed:10729113)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251A → T.4 Publications
Corresponds to variant rs10779261 [ dbSNP | Ensembl ].
VAR_025760
Natural varianti163 – 1631C → Y in USH2A. 2 Publications
VAR_025761
Natural varianti218 – 2181V → E in USH2A. 2 Publications
VAR_025762
Natural varianti230 – 2301V → M in USH2A; may be a common polymorphism. 4 Publications
Corresponds to variant rs45500891 [ dbSNP | Ensembl ].
VAR_025763
Natural varianti268 – 2681G → R in USH2A; unknown pathological significance. 2 Publications
VAR_054557
Natural varianti280 – 2801L → F in USH2A. 1 Publication
VAR_054558
Natural varianti284 – 2841E → K in USH2A. 1 Publication
VAR_054559
Natural varianti303 – 3031R → C in USH2A. 1 Publication
VAR_054560
Natural varianti303 – 3031R → S in USH2A. 1 Publication
VAR_054561
Natural varianti307 – 3071S → I in USH2A; unknown pathological significance. 1 Publication
VAR_054562
Natural varianti319 – 3191C → Y in USH2A. 1 Publication
VAR_025764
Natural varianti334 – 3341R → Q in USH2A. 1 Publication
VAR_054563
Natural varianti334 – 3341R → W in USH2A. 4 Publications
VAR_025765
Natural varianti346 – 3461N → H in USH2A. 5 Publications
VAR_025766
Natural varianti352 – 3521T → I in USH2A. 2 Publications
VAR_054564
Natural varianti357 – 3571N → T in USH2A. 1 Publication
VAR_054565
Natural varianti365 – 3651L → F.1 Publication
VAR_054566
Natural varianti391 – 3911S → I in USH2A; unknown pathological significance. 1 Publication
VAR_054567
Natural varianti419 – 4191C → F in USH2A and RP39. 4 Publications
VAR_025767
Natural varianti453 – 4531T → I Found in a renal cell carcinoma sample; somatic mutation. 1 Publication
VAR_064761
Natural varianti464 – 4641R → C in USH2A; unknown pathological significance. 1 Publication
VAR_054568
Natural varianti478 – 4781E → D in RP39 and USH2A; unknown pathological significance. 5 Publications
Corresponds to variant rs35730265 [ dbSNP | Ensembl ].
VAR_025768
Natural varianti479 – 4791F → S.2 Publications
VAR_054569
Natural varianti516 – 5161G → V in USH2A; unknown pathological significance.
VAR_054570
Natural varianti517 – 5171R → T in USH2A; unknown pathological significance. 1 Publication
VAR_054571
Natural varianti536 – 5361C → R in USH2A; abolishes interaction with collagen IV. 3 Publications
VAR_025769
Natural varianti555 – 5551L → V in USH2A. 1 Publication
Corresponds to variant rs35818432 [ dbSNP | Ensembl ].
VAR_025770
Natural varianti575 – 5751C → S in USH2A; unknown pathological significance. 1 Publication
VAR_054572
Natural varianti587 – 5871Missing in USH2A; unknown pathological significance. 1 Publication
VAR_054573
Natural varianti595 – 5951F → S.1 Publication
Corresponds to variant rs200496467 [ dbSNP | Ensembl ].
VAR_054574
Natural varianti610 – 6101H → P in USH2A. 1 Publication
VAR_025771
Natural varianti644 – 6441D → V.6 Publications
Corresponds to variant rs1805048 [ dbSNP | Ensembl ].
VAR_025772
Natural varianti703 – 7031D → E.1 Publication
VAR_025773
Natural varianti713 – 7131G → R in USH2A; abolishes interaction with collagen IV; unknown pathological significance. 7 Publications
Corresponds to variant rs696723 [ dbSNP | Ensembl ].
VAR_025774
Natural varianti739 – 7391F → L in RP39; unknown pathological significance. 1 Publication
VAR_054575
Natural varianti759 – 7591C → F in RP39 and USH2A. 9 Publications
Corresponds to variant rs80338902 [ dbSNP | Ensembl ].
VAR_025775
Natural varianti761 – 7611P → R in USH2A. 1 Publication
VAR_025776
Natural varianti841 – 8411S → Y.1 Publication
Corresponds to variant rs111033282 [ dbSNP | Ensembl ].
VAR_025777
Natural varianti911 – 9111T → N in RP39; unknown pathological significance. 1 Publication
VAR_054576
Natural varianti1047 – 10471L → V.1 Publication
VAR_054577
Natural varianti1059 – 10591P → L in USH2A; unknown pathological significance. 1 Publication
VAR_054578
Natural varianti1212 – 12121P → L in USH2A. 1 Publication
VAR_054579
Natural varianti1349 – 13491S → P.1 Publication
VAR_054580
Natural varianti1470 – 14701L → R in RP39; unknown pathological significance. 1 Publication
VAR_054581
Natural varianti1486 – 14861R → K.7 Publications