| S.NO | Uniprot ID | Protein Name | Sequence Length | LNR Repeats region | Disease |
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| 1 | Q9UM47 | Neurogenic locus notch homolog protein 3 | 2321 | | "DISEASE: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Myofibromatosis, infantile 2 (IMF2) [MIM:615293]: A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs.
Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk.
Skeletal and muscular lesions occur in about half of the patients.
Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life.
Visceral lesions are associated with high morbidity and mortality.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Lateral meningocele syndrome (LMNS) [MIM:130720]: A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column.
LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance.
Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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| 2 | Q04721 | Neurogenic locus notch homolog protein 2 | 2471 | | "DISEASE: Alagille syndrome 2 (ALGS2) [MIM:610205]: A form of Alagille syndrome, an autosomal dominant multisystem disorder.
It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations.
There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Hajdu-Cheney syndrome (HJCYS) [MIM:102500]: A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth).
Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes.
Note=The disease is caused by mutations affecting the gene represented in this entry.
NOTCH2 nonsense and frameshift mutations associated with Hajdu-Cheney syndrome cluster to the last coding exon of the gene.
Mutant mRNA products escape nonsense-mediated decay and the resulting truncated NOTCH2 proteins act in a gain-of-function manner (PubMed:21378989).
The pathological mechanism at cellular level involves disruption of a high affinity degron recognized by FBXW7 at the C-terminus, loss of interaction with FBXW7, reduced ubiquitination and degradation, and increased NOTCH2 levels.
Bone marrow cells derived from HJCYS patients have an enhanced capacity of osteoclastogenesis due to sustained NOTCH2 activity (PubMed:29149593)".
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| 3 | P46531 | Neurogenic locus notch homolog protein 1 | 2555 | | "DISEASE: Aortic valve disease 1 (AOVD1) [MIM:109730]: A common defect in the aortic valve in which two rather than three leaflets are present.
It is often associated with aortic valve calcification, stenosis and insufficiency.
In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Adams-Oliver syndrome 5 (AOS5) [MIM:616028]: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects.
Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones.
Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly).
Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected.
Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed.
The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.
Note=The disease is caused by mutations affecting the gene represented in this entry".
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| 4 | Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | 1256 | | "DISEASE: Mucolipidosis type II (MLII) [MIM:252500]: Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria.
Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]: Autosomal recessive disease of lysosomal enzyme targeting.
Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature.
Mildly coarsened facial features and thickening of the skin have been described.
Cardiac valvular disease and corneal clouding may also occur.
Half of the reported patients show learning disabilities or mental retardation.
Note=The disease is caused by mutations affecting the gene represented in this entry.
; DISEASE: Note=Genetic variations in GNPTAB have been suggested to play a role in susceptibility to persistent stuttering.
Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech".
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