convention used for naming mutations for diabetes insipidus
website
The names of the mutations were assigned according to S.E. Antonarakis and the Nomenclature Working Group:
Recommendations for a nomenclature system for human gene mutations. Human Mutation 11:1-3, 1998.
DEFINITIONS
Systematic Name nucleotide-based mutation names
AVPR2 genomic DNA-based system, reference sequence GenBank Accession Number L22206.
Name begins with "g."
AVP-NPII genomic DNA-based system, reference sequence GenBank Accession Number M11166.
Name begins with "g."
AQP2 cDNA-based system, reference sequence GenBank Accession Numbers AF147092 and AF147093.
Name begins with "c."
Common Name common or "trivial" name of mutation; includes amino acid-based mutation names
Alternate Name published name of mutation if significantly different from systematic or common name
NT NUMBERING
genomic: the A of the initiator Met codon is denoted as +1; there is no zero; the nt 5' to +1 is -1
cDNA: the A of the initiator Met codon is denoted as +1; there is no zero; the nt 5' to +1 is -1; for
introns, numbering is positive (starting at +1) from 5' of intron to approximate midpoint,
negative (starting at -1) from 3' of intron to approximate midpoint; cDNA numbering is extended
into 3'UTR
Common Name: for coding region, numbering is by codon or cDNA
EXAMPLE SEQUENCE
Exon 3 IVS 4 Exon 4 3'UTR
cDNA: 253 259 +1 -1 265 417
genomic: 1991 1997 2003 2106 2107 2259
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AAT GTG TGC CGG gt . . . ag GTC . . . TGA gg
Asn Val Cys Arg Val
Codon: 100 101 102 103 104
Code: N V C R V
Systematic Name Common/Trivial Name
missense/nonsense use normal nt number, ">", mutant nt number use the normal single-letter amino acid
mutations code, the codon number, and the single-
letter code for the mutant amino acid
(X = stop codon); if same common name
results from different mutations, add
"(normal sequence>mutant sequence)", for
example: N100K(AAT>AAA)and N100K(AAT>AAG)
silent same as for "missense/nonsense" use single-letter amino acid code and codon
substitution number followed by "(GenBank nt sequence">"
mutant sequence)"
Example: substitution of 1 nt
cDNA: 256 256
genomic: 1994 1994
| | Systematic Common/Trivial
AAT GTG TGC AAT CTG TGC g.1994G>C V101L
Asn Val Cys Asn Leu Cys c.256G>C
100 101 102 100 101 102
N V C N L C
Normal Mutant
Example: silent substitution in V101 (GTG or GTC) g.1996G>C V101(GTG>GTC)
c.258G>C
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nt deletion put 'del' after the nt number; include the nt same rules as cDNA-based systematic name
name for deletions of 1 or 2 nts; for deletions
in short tandem repeats, the most 3' nt(s) are used
Example: deletion of 1 nt
cDNA: 256 256
genomic: 1994 1994
| | Systematic Common/Trivial
AAT GTG TGC AAT TGT GCC g.1994delG 256delG
Asn Val Cys Asn Cys Ala c.256delG
100 101 102 100 101 102
N V C N C A
Normal Mutant
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one aa deletion put 'del' after the deleted nt numbers use single-letter amino acid code, codon
number and 'del'
Example: deletion of 1 amino acid
cDNA: 256 256
genomic: 1994 1994
| | Systematic Common/Trivial
AAT GTG TGC AAT TGC g.1994-1996del V101del
Asn Val Cys Asn Cys c.256-258del
100 101 102 100 101
N V C N C
Normal Mutant
Example: deletion of more than 3 nts
cDNA: 256 256
genomic: 1994 1994
| | Systematic Common/Trivial
AAT GTG TGC AAT GCC g.1994-1997del 256-259del
Asn Val Cys Asn Ala c.256-259del
100 101 102 100 101
N V C N A
Normal Mutant
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nt insertion put 'ins' after the flanking nts; include the same rules as cDNA-based systematic name
sequence for insertions of 1 or 2 nts, for larger
insertions include the number of nts inserted;
use the most 3' nt interval
Example: insertion of 2 nt (TG)
cDNA: 256 256
genomic: 1994 1994
| | Systematic Common/Trivial
AAT GTG TGC AAT GTG TGT GCC g.1998-1999insTG 260-261insTG
Asn Val Cys Asn Val Cys Ala c.260-261insTG
100 101 102 100 101 102 103
N V C N V C A
Normal Mutant
Example: insertion of 1 amino acid
cDNA: 256 256
genomic: 1994 1994
| | Systematic Common/Trivial
AAT GTG TGC AAT CAG GTG TGC g.1993-1994ins3 Q100-101ins
Asn Val Cys Asn Gln Val Cys c.255-256ins3
100 101 102 100 101 102 103
N V C N Q V C
Normal Mutant
Example: insertion of 12 nts
cDNA: 256 256
genomic: 1994 1994
| | Systematic Common/Trivial
AAT GTG TGC AAT GTA AAA CCC GGG AAG TGC g.1995-1996ins12 257-258ins12
Asn Val Cys Asn Val Lys Pro Gly Lys Cys c.257-258ins12
100 101 102 100 101 102 103 104 105 106
N V C N V V P G K C
Normal Mutant
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nt change in +1 = G of the donor (5' splice junction); same rules as cDNA-based systematic name but
noncoding region/ -1 = G of the acceptor (3' splice junction) use 'IVS', intron number, etc.
splice-site missense mutation takes precedence over
cryptic splice-sites created by nt change;
For mutations in 3'UTR, continue cDNA numbering
from stop codon
Example: substitution of 1 nt at the 5' end of intron 4
cDNA: 262 +1 -1 262 +1 -1
genomic: 2000 2003 2106 2000 2003 2106
| | | | | | Systematic Common/Trivial
TGC CGG gt . . . ag GTC TGC CGG tt . . . ag GTC g.2003G>T IVS4+1G>T
Cys Arg IVS4 Val Cys Arg IVS4 Val c.264+1G>T
Codon: 102 103 104 102 103 104
Code: C R V C R V
Normal Mutant
Example: substitution of 1 nt at the 3' end of intron 4
cDNA: 262 +1 -1 262 +1 -1
genomic: 2000 2003 2106 2000 2003 2106
| | | | | | Systematic Common/Trivial
TGC CGG gt . . . ag GTC TGC CGG gt . . . cg GTC g.2105A>C IVS4-2A>C
Cys Arg IVS4 Val Cys Arg IVS4 Val c.265-2A>C
Codon: 102 103 104 102 103 104
Code: C R V C R V
Normal Mutant
Example: substitution of 1 nt in the 3'UTR
cDNA: 265 417 265 417
genomic: 2107 2259 2107 2259
| | | | Systematic Common/Trivial
AAA . . . TGA ga AAA . . . TGA gc g.2261A>C 419A>C
Code Lys . . . stop Lys . . . stop c.419A>C
Normal Mutant
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Prepared by Joyce Crumley and Mary Fujiwara - January 2000
Page last modified: 21 June 2000
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