|
Note that a single variant record may represent multiple people with that particular variant who are in the same family.
General statistics about the database.
| Category |
Number of Records |
| Intermediate Filament Proteins in the Database |
73
|
| Total Recorded Sequence Variants |
1749
|
| Total Recorded Allelic Variants |
1276
|
| Number of Variant Related Publications |
626
|
| Associated Diseases |
89
|
| Number of Monoclonal Antibodies |
289
|
| Number of Monoclonal Antibody Related Publications |
171
|
Data by Intermediate Filament |
|---|
|
Click here to download the table as a Microsoft Excel file.
Note: 'No. of Publications' and 'No. of Associated Diseases' are not additive as a single publication or disease may be common to multiple intermediate filament.
|
Data by associated disease |
|---|
|
Click here to download the table as a Microsoft Excel file.
| Disease | Number of variation records | Unique intermediate filament proteins | Stacked bars
 |
|---|
| Alexander disease | 168 | glial fibrillary acidic protein |  | | CMD1A | 149 | desmin, lamin A, lamin C1 |    | | EDMD2 | 132 | lamin A |  | | EBS-DM | 113 | K14, K5 |   | | BCIE/EHK | 97 | K10, K1 |   | | EBS-WC | 88 | K14, K5 |   | | PC-1 | 84 | K16, K17, K6a |    | | EPPK | 82 | K10, K9, K16, K1 |     | | FPLD2 | 81 | lamin A |  | | HGPS | 63 | lamin A |  | | Desmin-related myopathy | 58 | desmin |  | | Monilethrix | 51 | K81, K86, K83 |    | | EBS-K | 49 | K14, K5 |   | | PC-2 | 36 | K17, K6b |   | | Liver disease | 34 | K18, K8 |   | | CMT2B1 | 33 | lamin A |  | | LGMD1B | 31 | lamin A |  | | IBS | 30 | K2 |  | | ALS1 | 25 | peripherin, NF-M, NF-H, NF-L |     | | MCD | 23 | K12, K3 |   | | IBD | 22 | K8 |  | | PBC | 18 | K18, K19, K8 |    | | MADA | 18 | lamin A |  | | CMT1 | 17 | NF-L |  | | EBS-MP | 16 | K14, K5 |   | | DCM-CD | 14 | desmin, lamin A |   | | FNEPPK | 13 | K16, K6c |   | | CMT2E | 12 | NF-L |  | | Dropped head syndrome | 12 | lamin A |  | | WSN | 12 | K13, K4 |   | | WRN | 10 | lamin A |  | | LAF | 10 | lamin A |  | | NIFID | 10 | NF-H |  | | Metabolic syndrome | 10 | lamin A |  | | DDD | 9 | K5 |  | | CMT2 | 8 | NF-L, lamin A |   | | PD | 8 | NF-M, NF-L |   | | Cryptogenic cirrhosis | 7 | K18, K8 |   | | REBS-K | 7 | K14, K5 |   | | Noncryptogenic cirrhosis | 6 | K8 |  | | Cardiomyopathy with advanced AV block and arrhythmia | 6 | lamin A |  | | Pancreatitis | 6 | K8 |  | | NEPPK | 5 | K1 |  | | CMD | 5 | lamin A |  | | ADLD | 5 | lamin B1 |  | | REBS | 5 | K14 |  | | CMD1I | 5 | desmin, lamin A |   | | SM | 5 | K17 |  | | APL | 4 | lamin B2 |  | | ADC | 4 | vimentin, CP49/phakinin |   | | FPLD1 | 4 | lamin A |  | | NFJS | 4 | K14 |  | | Muscular dystrophy | 3 | lamin A |  | | IHCM | 3 | K1 |  | | Generalized lipoatrophy syndrome | 2 | lamin A |  | | Distal myopathy | 2 | desmin |  | | RCM2 | 2 | desmin |  | | PPK | 2 | K1 |  | | DPR | 2 | K14 |  | | EBS-MCE | 2 | K5 |  | | Desmin-related limb-girdle muscular dystrophy | 2 | desmin |  | | EDMD3 | 2 | lamin A |  | | RD | 2 | lamin A |  | | REBS-WC | 2 | K14 |  | | AD-SMA | 2 | lamin A |  | | CIEH | 2 | K10 |  | | CCD | 2 | lamin A |  | | Ectodermal Dysplasia, 'Pure' Hair-Nail Type | 1 | K85 |  | | GS | 1 | K1 |  | | Muscular dystrophy and lipodystrophy | 1 | lamin A |  | | Muscular dystrophy and axonal neuropathy | 1 | lamin C1 |  | | Heart-hand syndrome, Slovenian Type | 1 | lamin A |  | | Epidermolysis bullosa simplex with severe palmoplantar hyperkeratosis | 1 | K5 |  | | Cardiac arrhythmia | 1 | lamin A |  | | CMT1F | 1 | NF-L |  | | Hepatic artery thrombosis | 1 | K18 |  | | Axonal neuropathy, muscular dystrophy, cardiac disease, leuconychia | 1 | lamin A |  | | PFB | 1 | K75 |  | | Epidermolysis bullosa simplex with maternal somatic and germline mosaicism | 1 | K5 |  | | Axonal neuropathy, muscular dystrophy, cardiac disease | 1 | lamin A |  | | Autosomal recessive cataract | 1 | filensin/CP115 |  | | Type A insulin resistance syndrome | 1 | lamin A |  | | Scapuloperoneal syndrome type Kaeser | 1 | desmin |  | | Lamin-related rigid spine muscular dystrophy | 1 | lamin A |  | | SPPK | 1 | K1 |  | | Acute fulminant hepatitis | 1 | K18 |  | | Viral hepatitis | 1 | K8 |  | | Distal motor neuropathy | 1 | lamin A |  | |
Nucleic acid substitution details |
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Chart Legend A C G T
Nature of nucleic acid substitution
(Mouse over bars to see individual counts.)
Click here to download the table as a Microsoft Excel file.
Number in parenthesis indicates the percentage of the change in relation to all changes.
The darker the cell color, the higher the percentage change.
 | A | C | G | T | Total |
|---|
| A | - | 51 (2.11) | 203 (8.41) | 42 (1.74) | 296 (12.27) |
|---|
| C | 50 (2.07) | - | 97 (4.02) | 541 (22.42) | 688 (28.51) |
|---|
| G | 615 (25.49) | 122 (5.06) | - | 263 (10.90) | 1000 (41.44) |
|---|
| T | 44 (1.82) | 331 (13.72) | 54 (2.24) | - | 429 (17.78) |
|---|
| Total | 709 (29.38) | 504 (20.89) | 354 (14.67) | 846 (35.06) | 2413 (100.00) |
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Statistics are also available for each type of intermediate filament:
Type I & II (keratins)
Type III (desmin, glial fibrillary acidic protein, peripherin and vimentin)
Type IV (α-internexin, NF-H, NF-L, NF-M, nestin, syncoilin, synemin α and synemin β)
Type V (lamins)
Type VI (eye lens intermediate filaments)
Last modified: April 17 2009 14:28:40. |