Features Key


This page contains descriptions of each of the column headings and field heading in the homepage and in the individual mutation record webpages.


The column headings of the mutations table on the homepage


Mutation Number

This number is the Monnat Unique Number (MUN) for the mutation, assigned to the mutation for cataloging and reference purposes. For mutations #001 to #050, this number is the same as that assigned by Huang et al., 2006.


Mutation

This entry describes the mutation at the nucleotide level, following the standard IUPAC nomenclature.


Consequence

This entry indicates the result of the mutation at the peptide level, following the standard IUPAC nomenclature.


Exon

This entry indicates in which exon (or exons) the mutation appears.


Domain

This entry indicates in which of the domains (if any) the mutation appears. Not all mutations are in a domain.




The mutation features shown in each mutation record webpage


Mutation description features


Molecular type:

This entry indicates the classification of the mutation. The classification categories are substitution, deletion, insertion, deletion/insertion, or nonsynonymous SNP


Nucleotide notation:

This entry describes the mutation at the nucleotide level, following the standard IUPAC nomenclature. (cf "Mutation" in the homepage table)


Protein notation:

This entry indicates the result of the mutation at the peptide level, following the standard IUPAC nomenclature. (cf "Consequence" in the homepage table)


Location:

This entry indicates in which exon (or exons) the mutation appears, and also indicates in which of the domains (if any) the mutation appears. (cf "Exon" and "Domain" in the homepage table)


Allelic status:

This entry indicates whether the mutation is observed to be homozygous or compound heterozygous



Mutation synonyms features


LSMD # = Monnat Unique Number:

This number is the Monnat Unique Number (MUN) for the mutation, assigned to the mutation for cataloging and reference purposes. For mutations #001 to #050, this number is the same as that assigned by Huang et al., 2006. (cf "Mutation number" in the homepage table). This number may also be called the "LSDM number", indicating the mutation's number in this Locus Specific Mutational Database.


Werner syndrome Registry #:

This is the number or numbers assigned to the patient(s) who exhibit this mutation, as assigned by the International Registry of Werner Syndrome.


Huang et al. mutation #:

This is the number assigned to the mutation by Huang et al., 2006.


Uhrhammer mutation #:

This is the number assigned to the mutation by Uhrhammer et al., 2006.


OMIM mutant allele #:

This is the number assigned to the mutation by Online Mendelian Inheritance in Man (OMIM) in their catalog reference: OMIM catalog # 277700


HGMD mutation #:

This is the number assigned to the mutation by the Human Gene Mutation Database.


Japanese mutation #:

This is the number assigned to the mutation by Matsumoto et al., 1997



Supplementary information


Patient ethnicity data:

This entry indicates the patient's nationality or ethnic background, as listed in Huang et al., 2006.


Patient race data:

This entry indicates the patient's race, as listed in Huang et al., 2006.


Additional Notes:

This entry is for additional information not covered by any of the other categories.



References


Published descriptions/references:

This entry indicates the publication or source of the information displayed. The specifics of the reference(s) are found in the References. This reference may not be the publication where the mutation was first described.