AC

Accession Number

genotype accession number

ID

Identifier

Mutated Factor: {"m"(for mutated)}{TRANSFAC® factor name (e.g. p53)}{mutation in brackets (e.g. A159V)}${species acronym (e.g. HS for homo sapiens)}
Mutated Site: {phenotype acronym (e.g. MODY for maturity onset diabetes of the young)}_{gene acronym and position of mutation or element}${species acronym}

DT

Date

creation date; author

DT

Date

date of last update; updater

GA

Genotype Name

name of the disease

OS

Species

biological species (TRANSFAC®,)

OC

Taxonomic Classification

systematic biological classification of the species (TRANSFAC®)

GC

Genotype Classification

classification of the mutation (e.g. (point) mutation or translocation)

MU

Mutation

short description of the mutation, three letter code indicating the mutation type (SUB=substitution, INS=insertion, DEL=deletion), followed by the new nucleotides (SUB, INS) or the missing ones (DEL)

FM

First Mutated Position

first nucleotide position affected by the mutation

DE

Description

detailed description of the mutation on DNA level

CH

Chromosomal Location

chromosomal location of the gene

GE

Gene Name

name of the gene

DG

Diagnosis

list of methods used to find/screen the mutation; extensive information concerning diagnosis methods are available in the linked Diagnosis Method

MM

Method(s)

link to Diagnosis Method (via accession number); Diagnosis Method identifier

TH

Therapy

applied therapy and benefits/results of application if indicated

CC

Comment

additional information

PT

Phenotype(s)

link to related Phenotype(s) (via accession number); phenotype name

RF

Related Factor(s)

link to related Mutated Factor(s) (via accession number)

RS

Related Site(s)

link to related Mutated Site (via accession number)

DR

External Databases

name of database (HGMD, OMIM, MGI, GeneCards); link via database accession number

RN

Reference Number

RX

Reference MEDLINE ID

RA

Reference Author(s)

RT

Reference Title

RL

Reference Journal