Statistics

GENERAL STATISTICS

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.

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. Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases Type I 364 22 160 23 K9 63 3 36 1 K10 54 0 25 3 K12 18 0 11 1 K13 5 0 4 1 K14 153 13 56 9 K15 0 0 0 0 K16 26 0 10 3 K17 30 1 15 3 K18 15 4 6 5 K19 0 0 0 0 K20 0 0 0 0 K23 0 0 0 0 K24 0 0 0 0 K25 (K25irs1) 0 0 0 0 K26 (K25irs2) 0 0 0 0 K27 (K25irs3) 0 0 0 0 K28 (K25irs4) 0 0 0 0 K31 (Ha1) 0 1 1 0 K32 (Ha2) 0 0 0 0 K33a (Ha3-I) 0 0 0 0 K33b (Ha3-II) 0 0 0 0 K34 (Ha4) 0 0 0 0 K35 (Ha5) 0 0 0 0 K36 (Ha6) 0 0 0 0 K37 (Ha7) 0 0 0 0 K38 (Ha8) 0 0 0 0 K39 (Ka35) 0 0 0 0 K40 (Ka36) 0 0 0 0 Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases Type II 388 374 153 30 K1 54 7 37 7 K2 (K2e) 30 0 16 1 K3 2 0 2 1 K4 4 0 3 1 K5 124 5 53 9 K6a 48 0 10 1 K6b 4 0 3 1 K6c (K6e/h) 0 0 0 0 K7 0 0 0 0 K8 75 350 14 6 K71 (K6irs1) 0 0 0 0 K72 (K6irs2) 0 0 0 0 K73 (K6irs3) 0 0 0 0 K74 (K6irs4) 0 0 0 0 K75 (K6hf) 0 1 1 1 K76 (K2p) 0 0 0 0 K77 (K1b) 0 0 0 0 K78 (K5b) 0 0 0 0 K79 (K6l) 0 0 0 0 K80 (Kb20) 0 0 0 0 K81 (Hb1) 8 5 6 1 K82 (Hb2) 0 0 0 0 K83 (Hb3) 1 2 1 1 K84 (Hb4) 0 0 0 0 K85 (Hb5) 1 0 1 1 K86 (Hb6) 37 4 15 1 Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases Type III 199 44 69 10 desmin 68 1 31 8 glial fibrillary acidic protein 130 30 37 1 peripherin 1 13 1 1 vimentin 0 0 0 0 Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases Type IV 62 44 24 7 α-internexin 0 0 0 0 NF-H 20 12 7 2 NF-L 34 24 17 6 NF-M 8 8 4 2 nestin 0 0 0 0 syncoilin 0 0 0 0 synemin α 0 0 0 0 synemin β 0 0 0 0 Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases Type V 369 37 117 23 lamin A 359 31 114 20 lamin B1 4 5 2 1 lamin B2 4 1 1 1 lamin C1 2 0 2 2 lamin C2 0 0 0 0 Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases Type VI 4 0 4 2 CP49/phakinin 3 0 3 1 filensin/CP115 1 0 1 1

Data by variant type

Click here to download the tables as a Microsoft Excel file. Type of cDNA variation Number of unique proteins Number of variation records Deletion 19 109 Duplication 5 14 Indel 6 11 Insertion 13 18 Substitution 33 1749 Unknown 3 6 Type of protein variation Number of unique proteins Number of variation records Deletion 16 81 Deletion, Substitution 1 1 Duplication 1 1 Frame shift 9 53 Indel 5 9 Insertion 8 10 Silent 18 133 Silent, Deletion 1 23 Substitution (Missense) 32 1545 Substitution (Nonsense) 5 28 Unknown 8 23

Data by affected domain
Click here to download the table as a Microsoft Excel file. Domain name Number of unique proteins Number of variation records Head 16 349 Head, 1A 2 4 Head, 2A 1 1 Head, 2B 1 1 1A 19 427 1A, 2B 1 1 L1 1 1 1B 11 97 1B, 2B 1 1 L12 7 41 2A 8 57 L2 4 11 L2, 2B 1 1 2B 24 484 2B, Tail 1 1 Tail 12 268 Not affected 18 130 Unknown 6 21

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 130 glial fibrillary acidic protein EBS-DM 107 K14, K5 EDMD2 100 lamin A BCIE/EHK 90 K10, K1 EBS-WC 78 K14, K5 CMD1A 76 desmin, lamin A, lamin C1 EPPK 71 K10, K9, K16, K1 FPLD2 70 lamin A PC-1 69 K16, K17, K6a Desmin-related myopathy 55 desmin Monilethrix 50 K81, K86, K83 EBS-K 48 K14, K5 HGPS 47 lamin A Liver disease 34 K18, K8 PC-2 31 K17, K6b IBS 30 K2 ALS1 25 peripherin, NF-M, NF-H, NF-L LGMD1B 24 lamin A IBD 22 K8 MCD 20 K12, K3 EBS-MP 16 K14, K5 MADA 15 lamin A CMT2E 12 NF-L CMT1 10 NF-L DCM-CD 10 desmin, lamin A NIFID 10 NF-H DDD 9 K5 CMT2B1 9 lamin A WSN 9 K13, K4 FNEPPK 9 K16 PD 8 NF-M, NF-L WRN 8 lamin A Cryptogenic cirrhosis 7 K18, K8 CMT2 7 NF-L, lamin A Noncryptogenic cirrhosis 6 K8 REBS-K 6 K14, K5 Pancreatitis 6 K8 REBS 5 K14 APL 4 lamin B2 ADLD 4 lamin B1 NFJS 4 K14 FPLD1 3 lamin A IHCM 3 K1 ADC 3 CP49/phakinin CMD 3 lamin A Desmin-related limb-girdle muscular dystrophy 2 desmin AD-SMA 2 lamin A EBS-MCE 2 K5 Distal myopathy 2 desmin CIEH 2 K10 PPK 2 K1 SM 2 K17 REBS-WC 2 K14 RD 2 lamin A PBC 1 K18 GS 1 K1 RCM2 1 desmin Autosomal recessive cataract 1 filensin/CP115 Muscular dystrophy and axonal neuropathy 1 lamin C1 Dropped head syndrome 1 lamin A Hepatic artery thrombosis 1 K18 Epidermolysis bullosa simplex with severe palmoplantar hyperkeratosis 1 K5 Axonal neuropathy, muscular dystrophy, cardiac disease, leuconychia 1 lamin A Axonal neuropathy, muscular dystrophy, cardiac disease 1 lamin A Epidermolysis bullosa simplex with maternal somatic and germline mosaicism 1 K5 Ectodermal Dysplasia, 'Pure' Hair-Nail Type 1 K85 Acute fulminant hepatitis 1 K18 PFB 1 K75 CMT1F 1 NF-L CMD1I 1 desmin DPR 1 K14 Type A insulin resistance syndrome 1 lamin A Scapuloperoneal syndrome type Kaeser 1 desmin NEPPK 1 K1 SPPK 1 K1 EDMD3 1 lamin A Viral hepatitis 1 K8 Generalized lipoatrophy syndrome 1 lamin A

Nucleic acid substitution details

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 - 41 (2.33) 119 (6.75) 38 (2.16) 198 (11.24) C 44 (2.50) - 40 (2.27) 377 (21.40) 461 (26.16) G 506 (28.72) 95 (5.39) - 241 (13.68) 842 (47.79) T 32 (1.82) 184 (10.44) 45 (2.55) - 261 (14.81) Total 582 (33.03) 320 (18.16) 204 (11.58) 656 (37.23) 1762 (100.00)

Amino acid substitution details

Chart Legend Amino acids with electrically positively charged side chains : K      R      H      Amino acids with electrically negatively charged side chains : D      E      Amino acids with polar but uncharged side chains : S      T      N      Q      Amino acids with hydrophobic side chains : A      I      L      M      F      W      Y      V      Special cases : P      C      G      Stop Codon : X      Nature of amino acid substitutions (Mouse over bars to see individual counts.)