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 406 638 194 23 K9 74 3 43 1 K10 60 0 31 3 K12 20 4 14 1 K13 6 0 5 1 K14 161 16 63 9 K15 0 0 0 0 K16 28 0 12 3 K17 38 1 22 3 K18 16 8 7 5 K19 3 605 2 1 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 437 453 172 32 K1 59 7 40 7 K2 (K2e) 30 0 16 1 K3 3 0 3 1 K4 6 0 4 1 K5 134 8 59 9 K6a 61 0 14 1 K6b 4 0 3 1 K6c (K6e/h) 4 0 2 1 K7 0 0 0 0 K8 88 426 15 7 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) 38 4 16 1 Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases Type III 244 56 93 11 desmin 74 1 36 8 glial fibrillary acidic protein 168 42 55 1 peripherin 1 13 1 1 syncoilin 0 0 0 0 vimentin 1 0 1 1 Intermediate Filament No. of Sequence Variants No. of Allelic Variants No. of Publications No. of Associated Diseases Type IV 69 52 27 7 α-internexin 0 0 0 0 NF-H 20 12 7 2 NF-L 41 32 20 6 NF-M 8 8 4 2 nestin 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 589 77 173 34 lamin A 578 71 169 31 lamin B1 5 5 3 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 2 429 Deletion 20 134 Duplication 5 15 Indel 7 15 Insertion 14 23 Substitution 35 2398 Unknown 3 11 Type of protein variation Number of unique proteins Number of variation records Deletion 17 90 Deletion, Substitution 3 4 Duplication 1 1 Frame shift 11 65 Indel 5 9 Insertion 8 11 Silent 21 389 Silent, Deletion 1 28 Substitution (Missense) 34 1894 Substitution (Nonsense) 6 48 Unknown 8 57

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 17 364 Head, 1A 2 4 Head, 2A 1 1 Head, 2B 1 1 1A 19 475 1A, L12 1 1 1A, 2B 1 1 L1 1 1 1B 12 136 1B, 2B 1 1 1B, Tail 1 1 L12 7 46 2A 8 62 L2 4 13 L2, 2B 1 1 2B 24 557 2B, Tail 1 1 Tail 12 310 Not affected 20 167 Unknown 6 41

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

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)

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.)   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 D E F G H I K L M N P Q R S T V W X Y Total A - 0 (0.00) 4 (0.20) 2 (0.10) 0 (0.00) 41 (2.09) 1 (0.05) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 14 (0.71) 0 (0.00) 0 (0.00) 3 (0.15) 22 (1.12) 13 (0.66) 0 (0.00) 0 (0.00) 0 (0.00) 100 (5.10) C 0 (0.00) - 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 3 (0.15) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 2 (0.10) 0 (0.00) 5 (0.26) D 0 (0.00) 0 (0.00) - 3 (0.15) 0 (0.00) 4 (0.20) 6 (0.31) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 15 (0.77) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 6 (0.31) 0 (0.00) 0 (0.00) 2 (0.10) 36 (1.84) E 3 (0.15) 0 (0.00) 17 (0.87) - 0 (0.00) 10 (0.51) 0 (0.00) 0 (0.00) 147 (7.50) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 9 (0.46) 0 (0.00) 0 (0.00) 0 (0.00) 5 (0.26) 0 (0.00) 7 (0.36) 0 (0.00) 198 (10.10) F 0 (0.00) 2 (0.10) 0 (0.00) 0 (0.00) - 0 (0.00) 0 (0.00) 1 (0.05) 0 (0.00) 2 (0.10) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 7 (0.36) 0 (0.00) 1 (0.05) 0 (0.00) 0 (0.00) 1 (0.05) 14 (0.71) G 1 (0.05) 185 (9.44) 4 (0.20) 2 (0.10) 0 (0.00) - 1 (0.05) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 7 (0.36) 11 (0.56) 0 (0.00) 1 (0.05) 0 (0.00) 0 (0.00) 0 (0.00) 212 (10.82) H 0 (0.00) 0 (0.00) 1 (0.05) 0 (0.00) 0 (0.00) 0 (0.00) - 0 (0.00) 0 (0.00) 2 (0.10) 0 (0.00) 0 (0.00) 1 (0.05) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 1 (0.05) 5 (0.26) I 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 5 (0.26) 0 (0.00) 0 (0.00) - 0 (0.00) 1 (0.05) 9 (0.46) 8 (0.41) 0 (0.00) 0 (0.00) 0 (0.00) 17 (0.87) 8 (0.41) 19 (0.97) 0 (0.00) 0 (0.00) 0 (0.00) 67 (3.42) K 0 (0.00) 0 (0.00) 0 (0.00) 7 (0.36) 0 (0.00) 0 (0.00) 0 (0.00) 1 (0.05) - 0 (0.00) 2 (0.10) 13 (0.66) 0 (0.00) 2 (0.10) 1 (0.05) 0 (0.00) 4 (0.20) 0 (0.00) 0 (0.00) 2 (0.10) 0 (0.00) 32 (1.63) L 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 15 (0.77) 0 (0.00) 1 (0.05) 0 (0.00) 0 (0.00) - 1 (0.05) 0 (0.00) 74 (3.78) 9 (0.46) 12 (0.61) 5 (0.26) 0 (0.00) 8 (0.41) 0 (0.00) 0 (0.00) 0 (0.00) 125 (6.38) M 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 1 (0.05) 6 (0.31) 0 (0.00) - 0 (0.00) 0 (0.00) 0 (0.00) 6 (0.31) 0 (0.00) 25 (1.28) 7 (0.36) 0 (0.00) 0 (0.00) 0 (0.00) 45 (2.30) N 0 (0.00) 0 (0.00) 12 (0.61) 0 (0.00) 0 (0.00) 0 (0.00) 5 (0.26) 6 (0.31) 16 (0.82) 0 (0.00) 0 (0.00) - 0 (0.00) 0 (0.00) 0 (0.00) 51 (2.60) 1 (0.05) 0 (0.00) 0 (0.00) 0 (0.00) 6 (0.31) 97 (4.95) P 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 24 (1.22) 0 (0.00) 0 (0.00) - 2 (0.10) 7 (0.36) 8 (0.41) 1 (0.05) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 42 (2.14) Q 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 14 (0.71) - 3 (0.15) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 18 (0.92) 0 (0.00) 35 (1.79) R 0 (0.00) 172 (8.78) 0 (0.00) 2 (0.10) 0 (0.00) 12 (0.61) 271 (13.83) 1 (0.05) 3 (0.15) 26 (1.33) 1 (0.05) 0 (0.00) 52 (2.65) 53 (2.70) - 13 (0.66) 2 (0.10) 0 (0.00) 116 (5.92) 8 (0.41) 0 (0.00) 732 (37.35) S 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 7 (0.36) 0 (0.00) 0 (0.00) 3 (0.15) 0 (0.00) 15 (0.77) 0 (0.00) 0 (0.00) 13 (0.66) 0 (0.00) 1 (0.05) - 6 (0.31) 0 (0.00) 0 (0.00) 1 (0.05) 2 (0.10) 48 (2.45) T 2 (0.10) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 7 (0.36) 4 (0.20) 0 (0.00) 3 (0.15) 0 (0.00) 6 (0.31) 0 (0.00) 2 (0.10) 4 (0.20) - 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 28 (1.43) V 6 (0.31) 0 (0.00) 3 (0.15) 0 (0.00) 1 (0.05) 2 (0.10) 0 (0.00) 9 (0.46) 0 (0.00) 9 (0.46) 20 (1.02) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) - 0 (0.00) 0 (0.00) 0 (0.00) 50 (2.55) W 0 (0.00) 2 (0.10) 0 (0.00) 0 (0.00) 0 (0.00) 1 (0.05) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 1 (0.05) 1 (0.05) 0 (0.00) 0 (0.00) - 3 (0.15) 0 (0.00) 8 (0.41) X 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) - 0 (0.00) 0 (0.00) Y 0 (0.00) 10 (0.51) 6 (0.31) 0 (0.00) 0 (0.00) 0 (0.00) 57 (2.91) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 0 (0.00) 1 (0.05) 0 (0.00) 0 (0.00) 0 (0.00) 7 (0.36) - 81 (4.13) Total 12 (0.61) 371 (18.93) 47 (2.40) 16 (0.82) 28 (1.43) 70 (3.57) 342 (17.45) 29 (1.48) 176 (8.98) 79 (4.03) 36 (1.84) 36 (1.84) 174 (8.88) 75 (3.83) 43 (2.19) 121 (6.17) 69 (3.52) 60 (3.06) 116 (5.92) 48 (2.45) 12 (0.61) 1960 (100.00)

STATISTICS FOR INDIVIDUAL INTERMEDIATE FILAMENT TYPE

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.