Nephrogenic and Neurogenic Diabetes Insipidus
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AVPR2

description of the variables

Information on this Web site comes from a database that we developed to record 
information on mutations in the arginine vasopressin receptor 2 gene (gene symbol 
AVPR2) based on published studies.  Information on mutations can be retrieved by 
name, type of mutation (e.g., missense, nonsense), putative status of mutation 
(disease-causing or benign), and location in the gene or V2 receptor.  In 
addition, we reviewed published expression studies and included information on 
the cell system in which the mutant receptor was expressed, functional 
classification of the mutation, and a brief summary of the data.

Following are descriptions of some of the variables.

      NOTE: The nucleotide sequence is based on GenBank Accession Number L22206.
            The A of the initiator Met codon is denoted as +1; there is no zero;
            the nt 5' to +1 is -1.
      SEE:  Schematic representation of the V2 receptor and Naming Mutations for
            our rules for assigning systematic and common names for mutations.

Systematic Name:
            name of the mutation assigned according to the recommendations proposed 
            in S.E. Antonarakis and the Nomenclature Working Group, "Recommendations 
            for a nomenclature system for human gene mutations,"
            Human Mutation 11:1-3, 1998.

Common Name:
            also referred to as "trivial name"; name of mutation assigned according 
            to nomenclature suggested in A.L. Beaudet and L.-C. Tsui, "A suggested 
            nomenclature for designating mutations." Human Mutation 2:245-248, 1993.  
            (For a discussion of systematic and common names, see E. Beutler et al., 
            "Mutation nomenclature: nicknames, systematic names, and unique 
            identifiers." Human Mutation 8:203-206, 1996.)

Alternate name: 
            alternate standardized name or one used in publication; separated with 
            '/' if more than one alternate name.

Domain:     predicted location of the mutation in the V2 receptor:

                    Codon
            EI      codons 1-37
            TMI     codons 38-60            
            CI      codons 61-78
            TMII    codons 79-101           
            EII     codons 102-108
            TMIII   codons 109-129          
            CII     codons 130-161
            TMIV    codons 162-177          
            EIII    codons 178-205
            TMV     codons 206-226          
            CIII    codons 227-271
            TMVI    codons 272-293          
            EIV     codons 294-300
            TMVII   codons 301-324          
            CIV     codons 325-371          
            Stop    codon  372

Exon/Intron: location of the mutation with respect to the gene structure

            exon-1: codons 1-8 + 1st nt of codon 9 
            exon-2: 2nd and 3rd nt of codon 9 + codons 10-303, + 1st nt of 304 
            exon-3: 2nd and 3rd nt of codon 304 + codons 305-372

Class:      classification of mutation according to authors of expression studies;
            these include 

Reference:  surname of first author and year of publication which links to the 
            complete reference.

Page last modified: 12 April 2000

Site last modified: 24 October 2003