Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Legend to Mutation Tables

Nomenclature and numbering of exons, introns and protein domains are according to standards.

Name

Name of mutation, according to the recommendations of the HGVS

Alias

Other names, commonly used by the scientific community to identify the mutation. Aliases are separated by a semi-colon.

Phenotype

ACCPN: Agenesis of the corpus callosum with peripheral neuropathy
ALS4: Juvenile amyotrophic lateral sclerosis 4
CCFDN: Congenital cataracts, facial dysmorphism, and neuropathy
CH: Congenital hypomyelination
CIDP: Chronic inflammatory demyelinating neuropathy
CIPA: Congenital insensivity to pain & anhidrosis
CMT1: Charcot-Marie-Tooth disease type 1
CMT1/2: mixed, intermediate CMT
CMT1X: Charcot-Marie-Tooth disease type 1X
CMT2: Charcot-Marie-Tooth disease type 2
CMT4: Charcot-Marie-Tooth disease type 4 (recessive)
dHMN: distal hereditary motor neuropathy
DSS: Dejerine-Sottas Syndrome
GAN: Giant axonal neuropathy
HMSN-L: Hereditary motor and sensory neuropathy - Lom
HNA: Hereditary neuralgic amyotrophy
HNPP: Hereditary neuropathy with liability to pressure palsies
HSAN IV, V: Hereditary sensory and autonomic neuropathy type IV, type V
HSN I, III: Hereditary sensory neuropathy type I, type III
SMARD: spinal muscular atrophy with respiratory distress
SPG17: Silver syndrome

Codon Change

If the mutation is in the coding region of the gene, change of the mutated codon From ... To ...

Description

Textual description of the mutation.

References

Link to the literature citations of the mutation.

Observed

Genomic, cDNA, or protein alterations associated with the mutation that are experimentally observed.

Deduced

Genomic, cDNA or protein alterations associated with the mutation that are not experimentally observed, but rather deduced from observations on another level.

Date Added

Date when the mutation was added to the database.

ID

Internal database identifier unique to each mutation.

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