The UMD-FBN1 mutations database
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Type and number of mutations

This option displays the overall content of the UMD- FBN1 database according to mutation types. You can have access to a specific group of mutations by a simple click on the title (for example to access the list of all missense mutations, click on "Missense").

 

	All records	Different variants	Samples
TOTAL	3077	1847	3044
Large rearrangements	51	33	50
Large deletions (>=1 exon)	48	30	47
Large duplications (>=1 exon)	3	3	3
Small rearrangements	3006	1795	2974
Small deletions (<1 exon)	331	268	331
Small insertions (<1 exon)	107	100	107
Splice sites (<10 bp from exon)	317	200	317
Point mutations	2249	1225	2225
Nonsense	434	210	434
Missense	1815	1015	1793
Mid-intronic variations	20	19	20
Indels	2	2	2

Mutations by exon/intron

This option displays the phasing of the 65 exons of the FBN1 gene. You can have access to small rearrangements localized within one exon (or intron) as well as large rearrangements that include this exon (or intron) by a simple click on the exon (or intron) of interest.

Mutations by protein domains

This option displays the protein domains of the FBN1 protein. You can have access to mutations from one domain by a simple click on the corresponding domain.

Mutations by Phenotype

This table displays the number of record with a specific phenotype. For a better visualisation, only categories are shown, to access sub-categories, click on the +/- button.

Cardiovascular

C-Aortic dilatation (unspecified) 2 C-Aortic insufficiency 94 C-Aortic surgery 27 C-Aortic valve prolapse 1 C-Asc. aortic dilatation 501 C-Asc. aortic dissection 95 C-Bicuspid aortic valve 6 C-Cardiac malformation 10 C-Congestive heart failure 16 C-Coronary arteries dilatation/dissection 1 C-Desc. aortic dilatation (thor or abdo) 26 C-Desc. aortic dissection (thor. or abdo.) 26 C-Dilation or dissection of asc. aorta 127 C-Incomplete description 6 C-Minor cardiovascular involvement 27 C-Mitral regurgitation 156 C-Mitral valve prolapse 364 C-Mitral valve surgery 1 C-No cardiovascular involvement 33 C-Other artery aneurysm/dissection 5 C-Pulmonary annulus dilatation 1 C-Pulmonary art. dilatation 11 C-Pulmonary valve insufficiency 8 C-Tricuspid valve prolapse 35

Craniofacial

CF-Bifid/broad uvula 1 CF-Blue sclerae 10 CF-Broad nasal bridge 3 CF-Craniosynostosis 3 CF-Deep set eyes 8 CF-Dolichocephaly 93 CF-Down-slanting palpebral fissures 65 CF-Enophthalmos 7 CF-Exotropia 2 CF-Hypertelorism 4 CF-Malar hypoplasia 52 CF-Micrognathia 9 CF-Proptosis 8 CF-Retrognathia 37 CF-Scaphocephaly 2 CF-Skull deformity 2 CF-Upward slanting palpebral fissures 1

Central Nervous System

CNS-Developmental delay 7 CNS-Enlarged cisterna magna 2 CNS-Lombosacral meningocele 8 CNS-Lumbosacral dural ectasia 89 CNS-Verbal expression pb 1

Pulmonary

L-Apical blebs 2 L-Hemidiaphragm eventration 2 L-Pneumectomy 1 L-Pulmonary emphysema 5 L-Spontaneous pneumothorax 48 L-Tracheobronchomalacia 1

Ocular

O-Adhesion of iris with cornea 1 O-Amblyopia 4 O-Aphakia 6 O-Astigmatism 15 O-Blindness 2 O-Cataract 25 O-Coloboma 6 O-Congenital miosis 1 O-Corneal detachment 0 O-Corneal guttae 1 O-Divergent strabismus 5 O-Ectopia lentis 493 O-Flat cornea (<42 dp) (m) 42 O-Glaucoma 29 O-Hypoplastic ciliary muscle->decreased miosis (m) 3 O-Hypoplastic iris (m) 5 O-Incomplete description 11 O-Increased axial length of globe (m) 24 O-Iridodonesis 31 O-Lens extraction 20 O-Lens implantation 3 O-Megalocornea 7 O-Microcornea 1 O-Microphthalmus 1 O-Microspherophakia 1 O-Myopia 254 O-Myopia >3 diopters (1) 45 O-Myopic macular degeneration 1 O-No implication 4 O-Not examined 2 O-Peripheral iris atrophy 1 O-Retinal ablation 1 O-Retinal aplasia 1 O-Retinal degeneration 6 O-Retinal detachment 33 O-Shallow anterior chambers 1 O-Spherophakia 5 O-Strabismus 22 O-Trabeculodysgenesis 1

Skeletal

S-Abnormal ears 33 S-Arachnodactyly (M) 506 S-Arm span/height >1.05 (M) 181 S-Camptodactyly 11 S-Characteristic facial appearance 132 S-Characteristic facial appearances 2 S-Chest deformity (unspecified) 135 S-Chondromalacia Patellae 1 S-Clinodactyly 1 S-Crowding teeth (m) 134 S-Crumpled ears 13 S-Dolichostenomelia 140 S-Enophthalmos (m) 10 S-Foot deformity 19 S-High arched palate 334 S-Incomplete description 25 S-Increased body length 129 S-Infantile hypotonia 1 S-Joint dislocation 7 S-Joint hypermobility (m) 314 S-Joint limitations 116 S-Kyphosis 24 S-Leg deformity 5 S-Long bone over growth 39 S-Lordosis 8 S-Muscular hypotonia 21 S-Pectus carinatum (M)(2) 134 S-Pectus excavatum moderate (m)(1) 101 S-Pectus excavatum severe 13 S-Pes planovalgus 1 S-Plain pes planus (M)(1) 224 S-Protusio acetabul* (M)(2) 48 S-Reduced extension of the elbows (<170¡)(M)(1) 45 S-Reduced US/LS ratio <0.87 (M) 148 S-Repeating twists 1 S-Scoliosis > 20¡ (M)(1) 336 S-Short stature 2 S-Valgus elbow 2

Other systems

Se-Hearing loss 3

Skin and Integument

SI-Bleeding tendency 1 SI-Easy bruising 2 SI-Incomplete description 3 SI-Inguinal hernia 56 SI-Loose, redundant skin 31 SI-MCP/IP nodules 4 SI-Other herniae 26 SI-Significant striae atrophicae (m)(1) 284 SI-Skin hyperextensibility 16 SI-Soft skin 2 SI-Stiff skin 7 SI-Tendency to ecchymosis 4 SI-Thickened skin 1 SI-Translucent skin 8 SI-Varicose veins 6

I found a mutation

This option allows to search for a specific mutation in order to check if it has been previously reported.

Free search

This option gives access to a quick search and an advanced search interface.

Insertions analysis

Determines for each mutation corresponding to an insertion if repeated sequneces could be involved in the aetiology of this mutation.

Deletions analysis

Determines for each mutation corresponding to a deletion if flanking repeated sequences could be involved in the aetiology of this mutation

UMD-Predictor

The UMD-Predictor system allows to visualize all predictions of the pathogenicity of all nucleotide substitutions from the coding sequence.

Human Splicing Finder

If your mutation is not listed in this database, You can also use the HSF system to evaluate the consequences of substitutions on splicing.

 

If you want to submit a mutation, please contact G. Collod-Béroud.