CDAN1 mutations in 16 cases of CDA I
CDA UPN, genotype; exons/introns affected . | Nucleotide position . | Consequence at the mRNA or amino acid level . | Mutation status . |
|---|---|---|---|
| 026/01, het | |||
| IVS 27-E 28 | E 28 del –10 to +31 nts | Splice acceptor deleted | n |
| 026/02, het | |||
| IVS 27-E 28 | E 28 del –10 to +31 nts | Splice acceptor deleted | n |
| 177/01, comhet | |||
| 12 | A1910G | Asn598Ser | d |
| 24 | 3259 insT | Frameshift | n |
| 178/01, comhet | |||
| 24 | 3259 insT | Frameshift | n |
| 26 | C3503T | Pro1129Leu | d |
| 406/01, comhet | |||
| 14 | C2287T | Arg724Trp | n |
| 23 | 3138 insTT | frameshift | n |
| 409/01, comhet | |||
| 12* | del 1902-1904 | del Glu596 | n |
| 24 | G3308A | Arg1064Gln | n |
| 27 | C3661T | Gln1 182Stop | n |
| 409/04, comhet | |||
| 12* | del 1902-1904 | del Glu596 | n |
| 24 | G3308A | Arg1064Gln | n |
| 27 | C3661T | Gln1182Stop | n |
| 414/01, het | |||
| 14 | C2129T | Pro671Leu | d |
| 421/01, comhet | |||
| 14 | C2129T | Pro671Leu | d |
| 15 | G2362T | Gly749Cys | n |
| 446/01, comhet | |||
| 23 | C3106T | Arg997Stop | d |
| 24 | A3242T | Asp1042Val | d |
| 447/01, hom | |||
| 26 | C3503T | Pro1129Leu | d |
| 26 | C3503T | Pro1129Leu | d |
| 488/01, het | |||
| 14 | C2254T | Arg713Trp | d |
| 498/01, het | |||
| 19 | G2719A | Val868Met | d |
| 512/01, comhet | |||
| 6 | T1192C | Phe359Leu | n |
| 14 | C2129T | Pro671Leu | d |
| 529/01, het | |||
| IVS 21 | E 21 +2nts insCCG | Splice donor affected | n |
CDA UPN, genotype; exons/introns affected . | Nucleotide position . | Consequence at the mRNA or amino acid level . | Mutation status . |
|---|---|---|---|
| 026/01, het | |||
| IVS 27-E 28 | E 28 del –10 to +31 nts | Splice acceptor deleted | n |
| 026/02, het | |||
| IVS 27-E 28 | E 28 del –10 to +31 nts | Splice acceptor deleted | n |
| 177/01, comhet | |||
| 12 | A1910G | Asn598Ser | d |
| 24 | 3259 insT | Frameshift | n |
| 178/01, comhet | |||
| 24 | 3259 insT | Frameshift | n |
| 26 | C3503T | Pro1129Leu | d |
| 406/01, comhet | |||
| 14 | C2287T | Arg724Trp | n |
| 23 | 3138 insTT | frameshift | n |
| 409/01, comhet | |||
| 12* | del 1902-1904 | del Glu596 | n |
| 24 | G3308A | Arg1064Gln | n |
| 27 | C3661T | Gln1 182Stop | n |
| 409/04, comhet | |||
| 12* | del 1902-1904 | del Glu596 | n |
| 24 | G3308A | Arg1064Gln | n |
| 27 | C3661T | Gln1182Stop | n |
| 414/01, het | |||
| 14 | C2129T | Pro671Leu | d |
| 421/01, comhet | |||
| 14 | C2129T | Pro671Leu | d |
| 15 | G2362T | Gly749Cys | n |
| 446/01, comhet | |||
| 23 | C3106T | Arg997Stop | d |
| 24 | A3242T | Asp1042Val | d |
| 447/01, hom | |||
| 26 | C3503T | Pro1129Leu | d |
| 26 | C3503T | Pro1129Leu | d |
| 488/01, het | |||
| 14 | C2254T | Arg713Trp | d |
| 498/01, het | |||
| 19 | G2719A | Val868Met | d |
| 512/01, comhet | |||
| 6 | T1192C | Phe359Leu | n |
| 14 | C2129T | Pro671Leu | d |
| 529/01, het | |||
| IVS 21 | E 21 +2nts insCCG | Splice donor affected | n |
Genomic DNA of 16 confirmed CDA I cases was analyzed for exonic (including exon-intron boundaries) CDANI mutations. Nucleotide positions are numbered according to accession number NM_138477. Amino acid assignment was according to NP_612486. None of the detected changes is described in the single-nucleotide polymorphism database dbSNP.23
het indicates heterozygote; n, novel (for this article) mutation; comhet, compound heterozygote; d, described mutation in Le Merrer et al12 or Tamary et al24 , and hom, homozygote.
Mutations with loss of an in-frame triplet, leading to the deletion of amino acid 596 without influence on the reading frame. Family analysis linked del Glu596 to Arg1064 Gln