Table 4 of Klintworth, Mol Vis 2006; 12:159-176.


Table 4. Summary of all CHST6 mutations found in MCD

In the "change" column, mutations reported previously have been changed from the authors' nomenclature to conform with recommended nomenclature. All previous reports have designated the first nucleotide of the CHST6 cDNA sequence as documented by Akama et al. [33] (GenBank accession number AF219990) as nucleotide +1, except for Gruenauer-Kloevekorn et al. [48], who designated the first nucleotide of the CHST6 cDNA sequence as reported by Hemmerich et al. [36] (GenBank accession number NM_021615) as nucleotide +1, and Sultana et al. [4], who designated the first nucleotide of the ATG initiation codon as nucleotide +1 (recommended nomenclature). An asterisk in the "Source" column indicates an inclusion of data from this article.

                                                  Total          Number
                                                number of     of families
                   Change                       families      per country     Source
---------------------------------------------   ---------   ---------------   -------
No mutation detected (on one or both alleles)      17        6 USA            [43]*
                                                             2 France         [42]
                                                             9 India          [2-4]
Deletion upstream from coding region                7        4 USA            *
                                                             2 Japan          [33]
                                                             1 Italy          [52]
Replacement upstream from coding region             3        3 Japan          [33]
Deletion of ORF                                     5        2 USA            *
                                                             2 India          [2]
                                                             1 Japan          [33]
c.1A>T (Met1?)                                      5        4 USA            *
                                                             1 Germany        [48]
c.[6G>A; 7C>A] (Trp2X + Leu3Met)                    1        1 India          [4]
c.15_16delCG (Arg5fs)                               1        1 India          [2]
c.15_16insATGCTGTGCG (Val6fs)                       1        1 Iceland        [40]
c.16_40del (Val6fs)                                 2        2 India          [3,4]
c.44T>C (Leu15Pro)                                  1        1 France         [42]
c.51delG (Gln18fs)                                  1        1 USA            *
c.52C>T (Gln18X)                                    1        1 India          [3]
c.65T>G (Leu22Arg)                                  1        1 India          [2]
c.91C>T (Pro31Ser)                                  2        1 USA            *
                                                             1 Britain        [41]
c.94_100del (Ser32fs)                               1        1 India          [3]
c.124C>T (His42Tyr)                                 1        1 India          [2]
c.137T>C (Leu46Pro)                                 1        1 USA            *
c.148C>A (Arg50Cys)                                 1        1 Japan          [33]
c.148C>T (Arg50Cys)                                 2        2 India          [2]
c.149G>T (Arg50Leu)                                 2        2 India          [2]
c.152C>T (Ser51Leu)                                 2        1 USA            [43]
                                                             1 Vietnam        [49]
c.155G>A (Gly52Asp)                                 2        2 India          [3]
c.158C>T (Ser53Leu)                                 8        1 USA            *
                                                             7 India          [2,3]
c.161C>T (Ser54Phe)                                 1        1 India          [4]
c.[166G>A; 167T>G] (Val56Arg)                       1        1 India          [4]
c.172C>T (Gln58X)                                   1        1 France         [42]
c.176T>C (Leu59Pro)                                 2        2 Vietnam        [49]
c.180delC (Phe60fs)                                 3        3 India          [3,4]
c.182A>C (Asn61Thr)                                 1        1 France         [42]
c.189C>G (His63Gln)                                 1        1 USA            *
c.196G>C (Val66Leu)                                 1        1 Vietnam        [49]
c.197T>A (Val66Asp)                                 1        1 Saudi Arabia   [44]
c.198delC (Phe67fs)                                 8        8 India          [2,3]
c.199T>A (Phe67Ile)                                 1        1 France         [42]
c.199T>G (Phe67Val)                                 1        1 Saudi Arabia   [44]
c.202T>C (Tyr68His)                                 1        1 France         [42]
c.213G>T (Glu71Asp)                                 1        1 Britain        [41]
c.214C>T (Pro72Ser)                                 2        1 USA            [43]
                                                             1 Britain        [41]
c.217G>A (Ala73Thr)                                 1        1 India          [4]
c.217G>C (Ala73Pro)                                 1        1 USA            *
c.226G>A (Val76Met)                                 1        1 Vietnam        [49]
c.231G>A (Trp77X)                                   1        1 USA            *
c.231G>C (Trp77Cys)                                 1        1 USA            [43]
c.244C>T (Gln82X)                                   2        1 France         [42]
                                                             1 Vietnam        [45,49]
c.271_273delGCTinsA (Ala91fs)                       2        1 France         [42]
                                                             1 USA            *
c.274G>C (Val92Leu)                                 1        1 USA            *
c.277C>A (Arg93Ser)                                 3        3 USA            [43]*
c.278G>A (Arg93His)                                 1        1 India          [2]
c.290G>C (Arg97Pro)                                 1        1 India          [2]
c.[293C>G; 294C>G] (Ser98Trp)                       1        1 India          [3]
c.[293C>T; 294C>G] (Ser98Leu)                       1        1 India          [4]
c.304T>G (Cys102Gly)                                4        2 USA            [43]
                                                             1 France         [42]
                                                             1 Italy          [52]
c.305G>A (Cys102Tyr)                                2        2 India          [2]
c.310A>G (Met104Val)                                1        1 USA            [43]
c.320T>C (Phe107Ser)                                4        1 Britain        [41]
                                                             3 India          [3]
c.329A>G (Tyr110Cys)                                1        1 USA            [43]
c.340C>T (Arg114Cys)                                1        1 USA            *
c.363C>G (Phe121Leu)                                2        1 USA            *
                                                             1 India          [3]
c.363_364insC (Gln122fs)                            1        1 France         [42]
c.365A>C (Gln122Pro)                                2        2 USA            [43]*
c.369G>A (Trp123X)                                  2        2 India          [3,4]
c.375_376insGGCCGTGC (Ser126fs)                     3        3 Vietnam        [45,49]
c.379C>T (Arg127Cys)                                4        1 Saudi Arabia   [44]
                                                             3 India          [2]
c.383C>T (Ala128Val)                                6        6 Iceland        [40]
c.391T>C (Ser131Pro)                                2        1 France         [42]
                                                             1 India          [4]
c.392C>T (Ser131Leu)                                3        3 USA            *
c.414_415insTT (Pro139fs)                           1        1 Japan          [33]
c.418C>T (Arg140X)                                  2        1 USA            [50]
                                                             1 Britain        [51]
c.455T>C (Leu152Pro)                                1        1 France         [42]
c.459C>A (Cys153X)                                  2        2 India          [3,4]
c.[494G>C; 495C>T] (Cys165Ser)                      9        8 Saudi Arabia   [44]
                                                             1 India          [4]
c.495C>G (Cys165Trp)                                1        1 India          [4]
c.497G>C (Arg166Pro)                                2        1 France         [42]
                                                             1 Iceland        [40]
c.500C>T (Ser167Phe)                                1        1 India          [4]
c.521A>G (Lys174Arg)                                3        3 Japan          [33]
c.529C>T (Arg177Cys)                                2        2 USA            *
c.530G>A (Arg177His)                                1        1 Japan          [47]
c.533T>G (Phe178Cys)                                1        1 India          [4]
c.545delA (Gln182fs)                               13       13 India          [2,4]
c.573_574insC (Ala192fs)                            1        1 USA            *
c.578T>C (Leu193Pro)                                1        1 India          [4]
c.581_586delACCTACinsGGT                            2        2 India          [2]
  (Asn194_Arg196delinsArgCys)
c.587_588insACG (Arg196_Ile197insArg)               1        1 India          [3]
c.593T>A (Val198Glu)                                1        1 Italy          [52]
c.599T>G (Leu200Arg)                               16       12 USA            [43]*
                                                             2 Britain        [41,51]
                                                             1 France         [42]
                                                             1 Italy          [52]
c.604C>A (Arg202Ser)                                2        2 India          [3,4]
c.607G>A (Asp203Asn)                                2        2 USA            *
c.609C>A (Asp203Glu)                                2        2 Japan          [33]
c.611C>A (Pro204Gln)                                3        1 France         [42]
                                                             1 India          [3]
                                                             1 Japan          [47]
c.611C>G (Pro204Arg)                                1        1 India          [4]
c.612_614delGCGinsAT (Arg205fs)                     2        2 India          [2,3]
c.614G>A (Arg205Gln)                                2        2 India          [2]
c.614G>T (Arg205Leu)                                1        1 Japan          [47]
c.616G>A (Ala206Thr)                                1        1 India          [2]
c.617C>T (Ala206Val)                                1        1 Britain        [41]
c.629C>T (Ser210Phe)                                1        1 India          [3]
c.631C>T (Arg211Trp)                                5        5 Japan          [33,47]
c.632G>A (Arg211Gln)                                8        8 Vietnam        [49]
c.649G>A (Ala217Thr)                                2        2 Japan          [39,47]
c.656_657insCTG (Ala219_Arg220insTrp)               6        6 India          [3,4]
c.661G>T (Asp221Tyr)                                2        2 India          [3,4]
c.663C>G (Asp221Glu)                                5        5 India          [3,4]
c.668G>A (Gly223Asp)                                1        1 USA            [50]
c.[682A>G; 683C>A] (Thr228Asp)                      1        1 USA            *
c.696G>A (Trp232X)                                  1        1 Vietnam        [49]
c.738C>G (Cys246Trp)                                1        1 USA            *
c.740delG  (Arg247fs)                               1        1 USA            *
c.744C>G (Ser248Arg)                                1        1 USA            *
c.746A>C (His249Pro)                                1        1 India          [2]
c.803A>G (Tyr268Cys)                                2        2 Vietnam        [49]
c.814C>A (Arg272Ser)                                1        1 India          [4]
c.815G>A (Arg272His)                                1        1 USA            *
c.820G>A (Glu274Lys)                                2        1 India          [2]
                                                             1 Japan          [33]
c.827T>C (Leu276Pro)                                5        3 USA            [43]*
                                                             1 Britain        [51]
                                                             1 India          [4]
c.925G>T (Gly309X)                                  1        1 India          [3]
c.991C>T (Gln331X)                                  1        1 USA            [43]
c.993G>T (Gln331His)                                2        1 USA            [50]
c.1000C>T (Arg334Cys)                               4        3 USA            *
                                                             1 India          [4]
c.1002_1012delinsTTG (His335fs)                     2        2 India          [4]
c.1039G>T (Glu347X)                                 1        1 India          [3]
c.1046G>A (Cys349Tyr)                               1        1 USA            *
c.1047C>G (Cys349Trp)                               1        1 USA            *
c.1056_1078del (Leu353fs)                           1        1 India          [2]
c.1060_1061insGTGCGCTG (Gln354fs)                   1        1 USA            [43]
c.1072T>G (Tyr358Asp)                               1        1 Britain        [51]

Klintworth, Mol Vis 2006; 12:159-176 <http://www.molvis.org/molvis/v12/a18/>
©2006 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535