Галерея 1460453

Галерея 1460453

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Allele origin:

unknown

Accession: SCV002811895.1
First in ClinVar: Dec 31, 2022
Last updated: Dec 31, 2022

Allele origin:

germline

Accession: SCV002240944.2
First in ClinVar: Mar 28, 2022
Last updated: Feb 07, 2023

PubMed:

11223851 ‚

20378821 ‚

7695699 ‚

8218237 ‚

19344236 ‚

23720012 ‚

27627812

This sequence change replaces glycine with arginine at codon 292 of the COL4A5 protein (p.Gly292Arg). The glycine residue is highly conserved and there is a … (more)
This sequence change replaces glycine with arginine at codon 292 of the COL4A5 protein (p.Gly292Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individuals with Alport syndrome (PMID: 11223851, 20378821). ClinVar contains an entry for this variant (Variation ID: 24333). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL4A5 protein function. This variant disrupts the triple helix domain of COL4A5. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL4A5, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 23720012, 27627812) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic. (less)

This sequence change replaces glycine with arginine at codon 292 of the COL4A5 protein (p.Gly292Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individuals with Alport syndrome (PMID: 11223851, 20378821). ClinVar contains an entry for this variant (Variation ID: 24333). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL4A5 protein function. This variant disrupts the triple helix domain of COL4A5. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL4A5, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 23720012, 27627812) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic.

Functional evidence

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This sequence change replaces glycine with arginine at codon 292 of the COL4A5 protein (p.Gly292Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individuals with Alport syndrome (PMID: 11223851, 20378821). ClinVar contains an entry for this variant (Variation ID: 24333). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL4A5 protein function. This variant disrupts the triple helix domain of COL4A5. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL4A5, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 23720012, 27627812) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic.

Text-mined citations for
rs104886073 4

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the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
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update may be due to an update to one of the included submitted
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NM_033380.3:c.874G>C

MANE Select

criteria provided, single submitter
criteria provided, single submitter
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

International Alport Mutation Consortium

Pediatric nephrology (Berlin, Germany)

Genotype-phenotype correlation in X-linked Alport syndrome.

Journal of the American Society of Nephrology : JASN

Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

American journal of medical genetics

Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

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Select Manufacturer CATERPILLAR JOHN DEERE KOMATSU A.O. SMITH ABG ACDELCO ACME DYNAMICS ACME MACHINERY ACTION AGE ADAMS ADVANCE MIXER, INC. AFRON AG-BAG INTERNATIONAL, LTD. AG-CHEM EQUIPMENT AGCO AGRACAT AGRALE AGRITALIA AHLMANN AIR PUMPS AIR-O-FAN AIRCO AIRFLOW SYSTEMS AIRMAN AIRTUG AJAX AKERMAN AKSA AL-JON ALASKA DIESEL ALBIN ALBION ALCO ALFA ROMEO ALLATT ALLEN ENGINEERING CORP. ALLENTOWN EQUIPMENT ALLIGHT ALLIS CHALMERS ALLISON ALLMAND ALLSTATE ALLTRACK INDUSTRIES ALTAYTRAC AMAZONE AMCA AMERICAN AMERICAN AUGERS, INC. AMERICAN GRAPE HARVESTER AMERICAN HOIST & DERRICK AMERICAN POCLAIN AMERICAN ROAD AMERICAN SPORTWORKS AMF AMIDA AMMANN AMPAC ANACONDA EQUIPMENT INTERNATIONAL LTD ANTONIO CARRARO APACHE ARCTIC CAT ARGO ARIENS ARMATRAC ARMSTRONG-SIDDELEY ARNOLT ARROW MFG. CO. ARTEC ASPHALT ZIPPER ASTEC ASTRA ASV, Inc. ATHEY ATLAS ATLAS COPCO ATLAS-IMPERIAL ATLAS-WEYHAUSEN ATMAX ATTEX AUSA AUSTIN AUSTIN-WESTERN AUTOBLADE AUTOMATIC TRANSPORTATION AVCO-LYCOMING AVELING-BARFORD AVERY B & W LATHROP BADGER BADGER DYNAMICS BAKER BAKER-LULL BAKER-RAULANG BALDOR BALDWIN BALDWIN-LIMA-HAMILTON BAMFORD BANDIT INDUSTRIES, INC. BANTAM BARAGA PRODUCTS, INC. (BPI) BARBER-GREENE BARFORD BARKO BARR BARTCO BASIC EQUIPMENT, INC. BAUKEMA BAUTZ BAY CITY SHOVEL BEAN, JOHN BEARCAT BEDFORD BELARUS BELAZ BELL BELLE BELLOLI BELOIT BEMIS DIVISION BENATI BENDIX-WESTINGHOUSE BENFORD BENFRA BERGMANN BERKELEY BERLIET BID-WELL BIG A BIG BUD BIG JOHN MFG. BITELLI BKS BLACKWELDER BLADE-MOR BLAW-KNOX BLH BLOUNT BLUE-BRUTE BMCO BOART LONGYEAR BOBCAT BOLENS BOLINDER BOLINDER-MUNKTELL BOMAG BOMBARDIER BOMFORD HIGHWAYMAN BOR-MOR BOREKING BOSS BOURGOIN BOWSER-BRIGGS BOXER BRADCO BRANDT BRANSON BRAUD BRAY BRIGGS & STRATTON BRISTOL BRITISH FORD BRITISH LEYLAND BROCE MFG. BROCKWAY BRODERSON MFG. CO BRON BROOKS BROOM & WADE BROS BROWN & SHARPE BROWN, DAVID BROWNING BROYT BRUCE BTI (BREAKER TECHNOLOGY, INC.) BUCHANAN BUCKEYE BUCYRUS-ERIE BUDA BUFFALO-BOMAG BUFFALO-SPRINGFIELD BUHLER VERSATILE BULLDOG BURKEEN BURNS BUSH HOG BUTLER BYRON ENTERPRISES, INC. CADILLAC-CRUSADER CALIFORNIA CUSTOM CAMACCHIO CAMECO CAN-CAR CANNON INDUSTRIES CAPITOL TRENCHER CARCO CARELIFT CARRARO CARRIER-TRANSICOLD CARUELLE CASAGRANDE CASE CASE-BELOIT CASE-INTERNATIONAL CBI CEDARAPIDS CEDIMA CENTAUR CENTRAL MINE EQUIPMENT CO. (CME) CENTURY CENTURY BOAT CERLIST DIESEL CESAB CESSNA CH & E CHALLENGE CHALLENGER CHAMPION CHAMPION CARRIER, INC. CHANCE, A.B. CHAR-LYNN CHERRINGTON CHICAGO-PNEUMATIC CHINOOK CHISHOLM-RYDER CHRIS-CRAFT CHRISTENSEN PRODUCTS CHRYSLER CHRYSLER-NISSAN CLAAS CLARK CLARK BROTHERS CLARK-ROSS CLETRAC CLEVELAND CLIMAX CLINE CLIPPER CLUB CAR CMC CMI CO-OP COBEY COCKSHUTT COE, INC. COLEMAN COLES COLT INDUSTRIES COLUMBIA COMMANDER COMMERCIAL COMPACT TECHNOLOGIES COMPACTO COMPAIR COMPTON ENTERPRISES CONCEPT PRODUCTS CORP. CONDOR CONSOLIDATED CONSOLIDATED DIESEL ELEC. CONSTRUCTION EQUIPMENT CO. CONSTRUCTION MACHINERY CO. CONSTRUCTION MACHINERY, INC. CONTINENTAL CONVEYANCER COOPER COOPER BESSEMER CORBITT CORE CUT CORNIVER COUNTRY CLIPPER COVENTRY CLIMAX COVENTRY VICTOR COYOTE CRAFTSMAN CRANE CARRIER CROSS MFG. CROWN CRUISAIR CRUSADER CTM (California Tomato Machinery) CTR (Division of Blount) CUB CADET CUMMINS CURBMASTER OF AMERICA CURRIER CURTISS-WRIGHT CUSHMAN CUSTOM D.B. ELPHINSTONE DAEWOO DAGENHAM DIESEL DAIMLER DAINONG DANA DANUSER DART DATSUN DAVEY DAVEY PAXMAN DAVID BROWN DAVINO DAVIS DAYTONA DBT DEARBORN DECLOET DELTA DELUXE DEMAG DEMAND FLOW MANUFACTURING, INC. DEMPSTER DERRUPE DETROIT DIESEL DEUTZ DEUTZ-ALLIS DEUTZ-FAHR DIAMOND PRODUCTS DIAMOND Z DIAMONT DICO DIECI DIETZ DIG-IT DIG-R-MOBILE DITCH WITCH DIVERSI-TECH DIXIE CHOPPER DIXON DJB DMI DMT DODGE DOLMAR DOMINION ROAD MACHINERY CO. LTD. DONGFENG DOOSAN DOPPSTADT DORMAN DOWTY DRESSER DRESSTA DRILTECH DROTT DURAND-WAYLAND DURATECH DUX MACHINERY CORP. DYNAHOE DYNALIFT DYNAMIC IND. DYNAPAC E-Z-GO E.M.D. EAGER BEAVER EAGLE EAGLE-PICHER EARTHFORCE EASY LAWN EATON EATON FULLER EATON MARINE EAVES EBRO ECHO ECOAIR ECONOMOBILE ECONOMY EDCO EDDISON EDER EGGING EICHER EIMCO ELGIN ELLIOTT EQUIPMENT CO. ELWELL-PARKER EMA EMPERIOR ENCORE ENDRESS ENFIELD ENGINEERING PRODUCTS ENSIGN ENSIGN CARBURETOR ENTERPRISE ERICKSON ERIN ERLINDER ETNYRE EUCLID EUROCOMACH EUROMACH EVINRUDE EVO EXACT HARVESTING SYSTEMS EXCEL EXCELLO EXMARK FABTEK FAI FAIRBANKS-MORSE FARESIN INDUSTRIES FARMALL FARMHAND FARMTRAC FARR FARYMANN FASTLINE SAW SYSTEMS FAUN FRISCH FAVELLE FAVCO FECON FEDERAL FENDT FERGUSON FERMEC FERRIS FIAT FIAT KOBELCO FIAT-ALLIS FIAT-HITACHI FIELD QUEEN FILTRAL FINLAY FINN CORPORATION FLAGSHIP FLETCHER FLOATER FLORY FLOTTMAN FMC FODEN FOEST FORANO FORD FOREDIL MACCHINE FOREMOST FOTON FOWLER FOX RIVER FRAM FRANKLIN FRANNA FREEMAN FRIDAY FRIGIKING FRUEHAUF FUCHS FULLER FURUKAWA FWD G.H. TENNANT G.K. MACHINE INC. GALION GALLENBERG GALLMAC GARDNER DENVER GARDNER ENGINES GARRETT GARWOOD-BUCKEYE GEHL GEMINI GENERAC GENERAL ELECTRIC GENERAL MOTORS CORP. GENERAL SUPPLY GENIE INDUSTRIES GERLINGER GIBSON GILLISONS VARIETY FABRICATION, INC. GILSON GLEANER GMC-DETROIT DIESEL GODWIN GOLDONI GOMACO GOODBARY GORMAN-RUPP GOTTWALD GRADALL GRAFT & STIFT GRASSHOPPER GRAVELY GRAY MARINE GREEN GREENWICH GREGOIRE GRENMECH GRESEN GRIMME GRIMMER SCHMIDT GROVE GULDNER GURIA GUTBROD GVM, INC. GYRO-TRAC HAGIE HAHN HALE HALL-SCOTT HALLA HALLETT HALSEY HAMM HAMMEL HANCO HANCOCK HANIX HANOMAG HANOMAG-HENSCHEL HANSON HANTA HARDIE HARLAN CORP. HARLO HARNISCHFEGER, P & H HARRIS HARVESTER CO. HARTL HARVEST PRO HATZ HAULMASTERS HAULOTTE HAULPAK HAWKER-SIDDELEY HAYBUSTER HEALEY HEATHFIELD ENGINEERING HEBARD HEIL HEIN-WARNER HELTZEL HENSCHEL HERCULES HERCULES HALL-SCOTT HESSTON HIDROMEK HILL HIMOINSA HINO HINOWA HITACHI HMC HOBART HOGZILLA HOKUETSU HOLDER HOLLANDDRAIN HOLMAN HOLMER HOMELITE HONDA HOOD HOPTO HOTSY HOUGH HUBER-WARCO HUDSON HUGHES-KEENAN HUMMERBEE HURLIMANN HUSKY HUSQVARNA HUSTLER HUTTE HY-DYNAMIC HY-POWER HYDRA PAC HYDRA-MAC HYDRA-POWER HYDRA-UNIT HYDRECO HYDREMA HYDRO-AX HYHOE HYMAC HYPAC HYSTER HYUNDAI I.H.I. ICC MFG. CO. IHC IME (Industria Macchine Ecologiche) IMER IMPCO INDMAR INGERSOLL-RAND INGRAM INLAND SYSTEMS, INC. INNOVATIVE MATERIAL SYSTEMS (IMS) INSLEY INTENSUS INTERCEPTOR INTERCONTINENTAL INTERNATIONAL HARVESTER INTERNATIONAL TRACTOR CO. INTERNATIONAL TRANSMISSION LTD. INTERNATIONAL-PALMER IOWA MANUFACTURING ISCO ISEKI ISUZU ITC ITT IVECO JACKRABBIT JACOBSEN JACTO JAEGER JAEGER MACHINE CO. JAY JCB (J.C. BAMFORD) JCI (JOHN CLARK INC.) JEKKO JENBACHER WERKE JET DYNAMICS JETCO JLG INDUSTRIES INC. JOHN BEAN JOHN BLUE JOHN E. MITCHELL JOHNSON JOHNSTON JONES MANUFACTURING JOY KAELBLE KAESER KALMAR KALMAR AC KAMA KANGO KATO KATOLIGHT CORP. KAWASAKI KCI-SCHEIDT KEESTRACK KELLOGG AMERICAN KELLY-RYAN KELVIN KENDALL KENT KENWORTH-DART KERMATH KHD KID KIEKHAEFER KILBY KIOTI KLEEMAN KLOCKNER-HUMBOLDT-DEUTZ KNUDSON KOBELCO KOEHRING KOHLER KOMPTECH KOOTENAY MFG. CO. KORVAN KOYKER KRAMER KRAMER-ALLRAD KRANE-KAR KRONE KRUPP KUBOTA KUKLA KW-DART LAFRANCE-REPUBLIC LAMBERT LAMBORGHINI LAMTRAC INTERNATIONAL LAND PRIDE LANDINI LANG TOOL COMPANY LATERRA LATHROP LAUSON-TECUMSEH LAVERDA LAWN BOY LAY-MOR LAYTON LECTRA HAUL LEE COMPANY, INC. LEEBOY LENAR LEROI LETOURNEAU, INC. LETOURNEAU-MARATHON LETOURNEAU-WESTINGHOUSE LEYLAND LIBRA COMPACT TECHNOLOGIES LIEBHERR LIFT KI
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Галерея 1460453

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