Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O75445

- USH2A_HUMAN

UniProt

O75445 - USH2A_HUMAN

Protein

Usherin

Gene

USH2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 3 (04 Apr 2006)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Involved in hearing and vision.

    GO - Molecular functioni

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

    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

    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.

    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

    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...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei5043 – 506321HelicalSequence AnalysisAdd
    BLAST

    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.
    HOGENOMiHOG000124780.
    HOVERGENiHBG094138.
    OMAiEIRIQAC.
    OrthoDBiEOG783MTD.
    PhylomeDBiO75445.
    TreeFamiTF330287.

    Family and domain databases

    Gene3Di2.60.120.200. 3 hits.
    2.60.40.10. 35 hits.
    InterProiIPR008985. ConA-like_lec_gl_sf.
    IPR013320. ConA-like_subgrp.
    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

    MNCPVLSLGS GFLFQVIEML IFAYFASISL TESRGLFPRL ENVGAFKKVS     50
    IVPTQAVCGL PDRSTFCHSS AAAESIQFCT QRFCIQDCPY RSSHPTYTAL 100
    FSAGLSSCIT PDKNDLHPNA HSNSASFIFG NHKSCFSSPP SPKLMASFTL 150
    AVWLKPEQQG VMCVIEKTVD GQIVFKLTIS EKETMFYYRT VNGLQPPIKV 200
    MTLGRILVKK WIHLSVQVHQ TKISFFINGV EKDHTPFNAR TLSGSITDFA 250
    SGTVQIGQSL NGLEQFVGRM QDFRLYQVAL TNREILEVFS GDLLRLHAQS 300
    HCRCPGSHPR VHPLAQRYCI PNDAGDTADN RVSRLNPEAH PLSFVNDNDV 350
    GTSWVSNVFT NITQLNQGVT ISVDLENGQY QVFYIIIQFF SPQPTEIRIQ 400
    RKKENSLDWE DWQYFARNCG AFGMKNNGDL EKPDSVNCLQ LSNFTPYSRG 450
    NVTFSILTPG PNYRPGYNNF YNTPSLQEFV KATQIRFHFH GQYYTTETAV 500
    NLRHRYYAVD EITISGRCQC HGHADNCDTT SQPYRCLCSQ ESFTEGLHCD 550
    RCLPLYNDKP FRQGDQVYAF NCKPCQCNSH SKSCHYNISV DPFPFEHFRG 600
    GGGVCDDCEH NTTGRNCELC KDYFFRQVGA DPSAIDVCKP CDCDTVGTRN 650
    GSILCDQIGG QCNCKRHVSG RQCNQCQNGF YNLQELDPDG CSPCNCNTSG 700
    TVDGDITCHQ NSGQCKCKAN VIGLRCDHCN FGFKFLRSFN DVGCEPCQCN 750
    LHGSVNKFCN PHSGQCECKK EAKGLQCDTC RENFYGLDVT NCKACDCDTA 800
    GSLPGTVCNA KTGQCICKPN VEGRQCNKCL EGNFYLRQNN SFLCLPCNCD 850
    KTGTINGSLL CNKSTGQCPC KLGVTGLRCN QCEPHRYNLT IDNFQHCQMC 900
    ECDSLGTLPG TICDPISGQC LCVPNRQGRR CNQCQPGFYI SPGNATGCLP 950
    CSCHTTGAVN HICNSLTGQC VCQDASIAGQ RCDQCKDHYF GFDPQTGRCQ 1000
    PCNCHLSGAL NETCHLVTGQ CFCKQFVTGS KCDACVPSAS HLDVNNLLGC 1050
    SKTPFQQPPP RGQVQSSSAI NLSWSPPDSP NAHWLTYSLL RDGFEIYTTE 1100
    DQYPYSIQYF LDTDLLPYTK YSYYIETTNV HGSTRSVAVT YKTKPGVPEG 1150
    NLTLSYIIPI GSDSVTLTWT TLSNQSGPIE KYILSCAPLA GGQPCVSYEG 1200
    HETSATIWNL VPFAKYDFSV QACTSGGCLH SLPITVTTAQ APPQRLSPPK 1250
    MQKISSTELH VEWSPPAELN GIIIRYELYM RRLRSTKETT SEESRVFQSS 1300
    GWLSPHSFVE SANENALKPP QTMTTITGLE PYTKYEFRVL AVNMAGSVSS 1350
    AWVSERTGES APVFMIPPSV FPLSSYSLNI SWEKPADNVT RGKVVGYDIN 1400
    MLSEQSPQQS IPMAFSQLLH TAKSQELSYT VEGLKPYRIY EFTITLCNSV 1450
    GCVTSASGAG QTLAAAPAQL RPPLVKGINS TTIHLRWFPP EELNGPSPIY 1500
    QLERRESSLP ALMTTMMKGI RFIGNGYCKF PSSTHPVNTD FTGIKASFRT 1550
    KVPEGLIVFA ASPGNQEEYF ALQLKKGRLY FLFDPQGSPV EVTTTNDHGK 1600
    QYSDGKWHEI IAIRHQAFGQ ITLDGIYTGS SAILNGSTVI GDNTGVFLGG 1650
    LPRSYTILRK DPEIIQKGFV GCLKDVHFMK NYNPSAIWEP LDWQSSEEQI 1700
    NVYNSWEGCP ASLNEGAQFL GAGFLELHPY MFHGGMNFEI SFKFRTDQLN 1750
    GLLLFVYNKD GPDFLAMELK SGILTFRLNT SLAFTQVDLL LGLSYCNGKW 1800
    NKVIIKKEGS FISASVNGLM KHASESGDQP LVVNSPVYVG GIPQELLNSY 1850
    QHLCLEQGFG GCMKDVKFTR GAVVNLASVS SGAVRVNLDG CLSTDSAVNC 1900
    RGNDSILVYQ GKEQSVYEGG LQPFTEYLYR VIASHEGGSV YSDWSRGRTT 1950
    GAAPQSVPTP SRVRSLNGYS IEVTWDEPVV RGVIEKYILK AYSEDSTRPP 2000
    RMPSASAEFV NTSNLTGILT GLLPFKNYAV TLTACTLAGC TESSHALNIS 2050
    TPQEAPQEVQ PPVAKSLPSS LLLSWNPPKK ANGIITQYCL YMDGRLIYSG 2100
    SEENYIVTDL AVFTPHQFLL SACTHVGCTN SSWVLLYTAQ LPPEHVDSPV 2150
    LTVLDSRTIH IQWKQPRKIS GILERYVLYM SNHTHDFTIW SVIYNSTELF 2200
    QDHMLQYVLP GNKYLIKLGA CTGGGCTVSE ASEALTDEDI PEGVPAPKAH 2250
    SYSPDSFNVS WTEPEYPNGV ITSYGLYLDG ILIHNSSELS YRAYGFAPWS 2300
    LHSFRVQACT AKGCALGPLV ENRTLEAPPE GTVNVFVKTQ GSRKAHVRWE 2350
    APFRPNGLLT HSVLFTGIFY VDPVGNNYTL LNVTKVMYSG EETNLWVLID 2400
    GLVPFTNYTV QVNISNSQGS LITDPITIAM PPGAPDGVLP PRLSSATPTS 2450
    LQVVWSTPAR NNAPGSPRYQ LQMRSGDSTH GFLELFSNPS ASLSYEVSDL 2500
    QPYTEYMFRL VASNGFGSAH SSWIPFMTAE DKPGPVVPPI LLDVKSRMML 2550
    VTWQHPRKSN GVITHYNIYL HGRLYLRTPG NVTNCTVMHL HPYTAYKFQV 2600
    EACTSKGCSL SPESQTVWTL PGAPEGIPSP ELFSDTPTSV IISWQPPTHP 2650
    NGLVENFTIE RRVKGKEEVT TLVTLPRSHS MRFIDKTSAL SPWTKYEYRV 2700
    LMSTLHGGTN SSAWVEVTTR PSRPAGVQPP VVTVLEPDAV QVTWKPPLIQ 2750
    NGDILSYEIH MPDPHITLTN VTSAVLSQKV THLIPFTNYS VTIVACSGGN 2800
    GYLGGCTESL PTYVTTHPTV PQNVGPLSVI PLSESYVVIS WQPPSKPNGP 2850
    NLRYELLRRK IQQPLASNPP EDLNRWHNIY SGTQWLYEDK GLSRFTTYEY 2900
    MLFVHNSVGF TPSREVTVTT LAGLPERGAN LTASVLNHTA IDVRWAKPTV 2950
    QDLQGEVEYY TLFWSSATSN DSLKILPDVN SHVIGHLKPN TEYWIFISVF 3000
    NGVHSINSAG LHATTCDGEP QGMLPPEVVI INSTAVRVIW TSPSNPNGVV 3050
    TEYSIYVNNK LYKTGMNVPG SFILRDLSPF TIYDIQVEVC TIYACVKSNG 3100
    TQITTVEDTP SDIPTPTIRG ITSRSLQIDW VSPRKPNGII LGYDLLWKTW 3150
    YPCAKTQKLV QDQSDELCKA VRCQKPESIC GHICYSSEAK VCCNGVLYNP 3200
    KPGHRCCEEK YIPFVLNSTG VCCGGRIQEA QPNHQCCSGY YARILPGEVC 3250
    CPDEQHNRVS VGIGDSCCGR MPYSTSGNQI CCAGRLHDGH GQKCCGRQIV 3300
    SNDLECCGGE EGVVYNRLPG MFCCGQDYVN MSDTICCSAS SGESKAHIKK 3350
    NDPVPVKCCE TELIPKSQKC CNGVGYNPLK YVCSDKISTG MMMKETKECR 3400
    ILCPASMEAT EHCGRCDFNF TSHICTVIRG SHNSTGKASI EEMCSSAEET 3450
    IHTGSVNTYS YTDVNLKPYM TYEYRISAWN SYGRGLSKAV RARTKEDVPQ 3500
    GVSPPTWTKI DNLEDTIVLN WRKPIQSNGP IIYYILLRNG IERFRGTSLS 3550
    FSDKEGIQPF QEYSYQLKAC TVAGCATSSK VVAATTQGVP ESILPPSITA 3600
    LSAVALHLSW SVPEKSNGVI KEYQIRQVGK GLIHTDTTDR RQHTVTGLQP 3650
    YTNYSFTLTA CTSAGCTSSE PFLGQTLQAA PEGVWVTPRH IIINSTTVEL 3700
    YWSLPEKPNG LVSQYQLSRN GNLLFLGGSE EQNFTDKNLE PNSRYTYKLE 3750
    VKTGGGSSAS DDYIVQTPMS TPEEIYPPYN ITVIGPYSIF VAWIPPGILI 3800
    PEIPVEYNVL LNDGSVTPLA FSVGHHQSTL LENLTPFTQY EIRIQACQNG 3850
    SCGVSSRMFV KTPEAAPMDL NSPVLKALGS ACIEIKWMPP EKPNGIIINY 3900
    FIYRRPAGIE EESVLFVWSE GALEFMDEGD TLRPFTLYEY RVRACNSKGS 3950
    VESLWSLTQT LEAPPQDFPA PWAQATSAHS VLLNWTKPES PNGIISHYRV 4000
    VYQERPDDPT FNSPTVHAFT VKGTSHQAHL YGLEPFTTYR IGVVAANHAG 4050
    EILSPWTLIQ TLESSPSGLR NFIVEQKENG RALLLQWSEP MRTNGVIKTY 4100
    NIFSDGFLEY SGLNRQFLFR RLDPFTLYTL TLEACTRAGC AHSAPQPLWT 4150
    DEAPPDSQLA PTVHSVKSTS VELSWSEPVN PNGKIIRYEV IRRCFEGKAW 4200
    GNQTIQADEK IVFTEYNTER NTFMYNDTGL QPWTQCEYKI YTWNSAGHTC 4250
    SSWNVVRTLQ APPEGLSPPV ISYVSMNPQK LLISWIPPEQ SNGIIQSYRL 4300
    QRNEMLYPFS FDPVTFNYTD EELLPFSTYS YALQACTSGG CSTSKPTSIT 4350
    TLEAAPSEVS PPDLWAVSAT QMNVCWSPPT VQNGKITKYL VRYDNKESLA 4400
    GQGLCLLVSH LQPYSQYNFS LVACTNGGCT ASVSKSAWTM EALPENMDSP 4450
    TLQVTGSESI EITWKPPRNP NGQIRSYELR RDGTIVYTGL ETRYRDFTLT 4500
    PGVEYSYTVT ASNSQGGILS PLVKDRTSPS APSGMEPPKL QARGPQEILV 4550
    NWDPPVRTNG DIINYTLFIR ELFERETKII HINTTHNSFG MQSYIVNQLK 4600
    PFHRYEIRIQ ACTTLGCASS DWTFIQTPEI APLMQPPPHL EVQMAPGGFQ 4650
    PTVSLLWTGP LQPNGKVLYY ELYRRQIATQ PRKSNPVLIY NGSSTSFIDS 4700
    ELLPFTEYEY QVWAVNSAGK APSSWTWCRT GPAPPEGLRA PTFHVISSTQ 4750
    AVVNISAPGK PNGIVSLYRL FSSSAHGAET VLSEGMATQQ TLHGLQAFTN 4800
    YSIGVEACTC FNCCSKGPTA ELRTHPAPPS GLSSPQIGTL ASRTASFRWS 4850
    PPMFPNGVIH SYELQFHVAC PPDSALPCTP SQIETKYTGL GQKASLGGLQ 4900
    PYTTYKLRVV AHNEVGSTAS EWISFTTQKE LPQYRAPFSV DSNLSVVCVN 4950
    WSDTFLLNGQ LKEYVLTDGG RRVYSGLDTT LYIPRTADKT FFFQVICTTD 5000
    EGSVKTPLIQ YDTSTGLGLV LTTPGKKKGS RSKSTEFYSE LWFIVLMAML 5050
    GLILLAIFLS LILQRKIHKE PYIRERPPLV PLQKRMSPLN VYPPGENHMG 5100
    LADTKIPRSG TPVSIRSNRS ACVLRIPSQN QTSLTYSQGS LHRSVSQLMD 5150
    IQDKKVLMDN SLWEAIMGHN SGLYVDEEDL MNAIKDFSSV TKERTTFTDT 5200
    HL 5202
    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
    Corresponds to variant rs1805049 [ dbSNP | Ensembl ].
    VAR_025778
    Natural varianti1515 – 15151T → M in USH2A. 1 Publication
    VAR_025779
    Natural varianti1572 – 15721L → F.3 Publications