All variants in the GLA gene

Information The variants shown are described using the NM_000169.2 transcript reference sequence.

732 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
./. 07 c.1000-1G>? - - IVS6-1 - GenBank GLA_00560 - - - Qi Ming
./. 01 c.134_138TGCAC>GCTCG - p.Leu45Arg;p.His46Ser g1312TGCAC -- GCTCG - GenBank GLA_00056 - - - Qi Ming
./. 05 c.801G>? - - M267I - GenBank GLA_00563 - - - Qi Ming
./. 06 c.888G>? - p.Met296Ile M296I - GenBank GLA_00561 - - - Qi Ming
./. 06 c.999+2T>? - - IVS6+2 - GenBank GLA_00557 - - - Qi Ming
./. 02 c.? - - c.3934 g5115GGCAGAGCTCATG -- GCAGAGCCA - GenBank GLA_00008 - - - Qi Ming
./. 04 c.? - p.Trp204X W204X - GenBank GLA_00008 - - - Qi Ming
./. 05 c.? - - N264A - GenBank GLA_00008 - - - Qi Ming
./. 07 c.? - - 11051delGA - GenBank GLA_00008 - - - Qi Ming
./. 07 c.? - - c.1149_1150insA, c.1152delC - GenBank GLA_00008 - - - Qi Ming
./. 03 c.? - - c.429 del(-77)CAGCC(-81) - GenBank GLA_00008 - intron 2 (c. 429 del(-77) CAGCC(-81) [IVS2 del(-77) CAGCC(-81)]), - Qi Ming
./. 05 c.? - - 773A2 , 2 bp - GenBank GLA_00008 - - - Qi Ming
./. 06 c.? - - 954ins5 , dup 5 bp - GenBank GLA_00008 - - - Qi Ming
./. 07 c.? - - 1016A11 , 11 bp - GenBank GLA_00008 - - - Qi Ming
./. 07 c.? - - 1123A53 , 53 bp - GenBank GLA_00008 - - - Qi Ming
./. 07 c.? - - 1208A3 , 3 bp - GenBank GLA_00008 - - - Qi Ming
./. 04 c.? - - IVS4+4 - GenBank GLA_00008 - - - Qi Ming
./. 01 c.? - - IVS-43delA - GenBank GLA_00008 - The mutation IVS6-42delT and IVS6-43delA have not been identified in any of the 150 control chromosomes studied. - Qi Ming
./. 06 c.? - - c.937C>T - GenBank GLA_00008 - - - Qi Ming
./. 06 c.? - - c.864A>T - GenBank GLA_00008 - - - Qi Ming
./. 03 c.? - - g.8319A>G - GenBank GLA_00008 - - - Qi Ming
./. 04 c.? - - g.9331G>A - GenBank GLA_00008 - - - Qi Ming
./. 01 c.? - p.Pro6X - - GenBank GLA_00008 - - - Qi Ming
./. 06 c.? - p.His302X H302X - GenBank GLA_00008 - - - Qi Ming
./. 06 c.? - p.Ile303X I303X - GenBank GLA_00008 - - - Qi Ming
./. 07 c.? - p.Phe396X F396X - GenBank GLA_00008 - - - Qi Ming
./. 02 c.? - p.Tyr123Met Y123M - GenBank GLA_00008 - - - Qi Ming
./. 07 c.? - p.? 2bpDel ex7 - GenBank GLA_00008 - - - Qi Ming
./. 03 c.? - - a single base substitution(G>A) at the 3' end of the consensus sequence of intron 3 - GenBank GLA_00008 - - - Qi Ming
./. 00 c.? - - a 402-bp deletion including the whole exon 3 sequence - GenBank GLA_00008 - - - Qi Ming
./. 04 c.? - - one new splice site mutation at the 3' end of the consensus sequence in exon 4 - GenBank GLA_00008 - - - Qi Ming
./. 00 c.? - - a G to A transition in the 5' untranslated (5'UT) region - GenBank GLA_00008 - - - Qi Ming
./. 06 c.? - - CAG/ttaaat - GenBank GLA_00008 - - - Qi Ming
./. 03 c.? - - 8321 (agGT>atGT) - GenBank GLA_00008 - - - Qi Ming
./. 05 c.? - - AA deleted in 5'-AAA-3', 10208-10210 - GenBank GLA_00008 - - - Qi Ming
./. 07 c.? - - 19 bp deletion between 10988-11007 - GenBank GLA_00008 - - - Qi Ming
./. 07 c.c.1081_1100del - p.Gly361ArgfsX7 - - GenBank GLA_00556 - - - Qi Ming
./. 01 c.2T>C - p.Met1Thr T to C transversion in exon 1 - GenBank GLA_00430 - - - Qi Ming
./. 01 c.2T>G - p.Met1Arg M1T - GenBank GLA_00027 - a T-to-G transversion in codon 1, predicting a methionine-to-threonine substitution (MIT); - Qi Ming
./. 01 c.2T>G - p.Met1Arg - - GenBank GLA_00027 - - - Qi Ming
./. 01 c.3G>A - p.Met1Ile - - GenBank GLA_00019 - S.S., who was found to have a G>A transition at nucleotide position 3 (Fi. 2A), that is, the G of the initiating methionine codon. This converts the initiation codon into an isoleucine codon (MlI) and should result in the failure of correct initiation of translation. The next ATG codon is an in-frame methionine codon at amino acid position 42, which is 11 amino acids after the signal peptide cleavage site, so it is unlikely that this mutation would result in any residual a-gal activity. - Qi Ming
./. 01 c.3G>A - p.Met1Ile - - GenBank GLA_00019 - - - Qi Ming
./. 01 c.8T>C - p.Leu3Pro - - GenBank GLA_00535 NA - - Qi Ming
./. 01 c.18delA - p.Glu7AsnfsX114 - - GenBank GLA_00268 - - - Qi Ming
./. 01 c.24A>G - p.Leu8Leu - - GenBank GLA_00503 - - - Qi Ming
./. 01 c.25del - p.His9IlefsX112 - - GenBank GLA_00362 - - - Qi Ming
./. 01 c.26delA - p.His9LeufsX112 - - GenBank GLA_00259 - - - Qi Ming
./. 01 c.26delA - p.His9LeufsX112 - - GenBank GLA_00259 - - - Qi Ming
./. 01 c.32delG - p.Gly11AlafsX110 30delG - GenBank GLA_00373 - - - Qi Ming
./. 01 c.34_57del24 - p.Cys12_Leu19del - - GenBank GLA_00467 - - - Qi Ming
./. 01 c.35_47del13 - p.Cys12PhefsX105 - - GenBank GLA_00235 - - - Qi Ming
./. 01 c.41T>C - p.Leu14Pro L14P - GenBank GLA_00024 - Direct DNA sequencing showed single T-to-C transi- tion in codon 14 of exon 1. This was a missense mutation predicting a leucine to proline substitution (L14P). - Qi Ming
./. 01 c.41T>C - p.Leu14Pro - - GenBank GLA_00024 - - - Qi Ming
./. 01 c.47T>C - p.Leu16Pro - - GenBank GLA_00103 - - - Qi Ming
./. 01 c.47T>C - p.Leu16Pro - - GenBank GLA_00103 - - - Qi Ming
./. 01 c.53T>C - p.Phe18Ser - - GenBank GLA_00116 - - - Qi Ming
./. 01 c.56T>C - p.Leu19Pro - - GenBank GLA_00102 - - - Qi Ming
./. 01 c.58G>C - p.Ala20Pro - - GenBank GLA_00014 - This missense mutation is in the coding region for the signal peptide of a-galactosidase. - Qi Ming
./. 01 c.59_73del - p.Ala20_Trp24del - - GenBank GLA_00217 - - - Qi Ming
./. 01 c.85dup - p.Ala29GlyfsX2 - - GenBank GLA_00427 - - - Qi Ming
./. 01 c.85dup - p.Ala29GlyfsX2 - - GenBank GLA_00249 - - - Qi Ming
./. 01 c.85G>A - p.Ala29Thr - - GenBank GLA_00534 NA - - Qi Ming
./. 01 c.92C>T - p.Ala31Val - - GenBank GLA_00028 - a C-to-T transition at a CpG dinucleotide in codon 31, resulting in an alanine-to-valine replacement (A31V); - Qi Ming
./. 01 c.92C>T - p.Ala31Val - - GenBank GLA_00028 - - - Qi Ming
./. 01 c.95T>C - p.Leu32Pro - - GenBank GLA_00504 - - - Qi Ming
./. 01 c.101A>G - p.Asn34Ser - - GenBank GLA_00168 - - - Qi Ming
./. 01 c.101A>G - p.Asn34Ser - - GenBank GLA_00168 - - - Qi Ming
./. 01 c.101A>G - p.Asn34Ser - - GenBank GLA_00168 - - Qi Ming
./. 01 c.101A>G - p.Asn34Ser - - GenBank GLA_00168 - - - Qi Ming
./. 01 c.101A>G - p.Asn34Ser A to G transversion in exon 1 - GenBank GLA_00168 - - - Qi Ming
./. 01 c.101A>G - p.Asn34Ser - - GenBank GLA_00168 - - - Qi Ming
./. 01 c.103G>A - p.Gly35Arg - - GenBank GLA_00508 - - - Qi Ming
./. 01 c.118C>T - p.Pro40Ser - - GenBank GLA_00377 - - - Qi Ming
./. 01 c.119C>T - p.Pro40Leu - - GenBank GLA_00391 - - - Qi Ming
./. 01 c.123_126dupCATG - p.Gly43HisfsX14 - - GenBank GLA_00385 - - - Qi Ming
./. 01 c.124A>C - p.Met42Leu - - GenBank GLA_00240 - - - Qi Ming
./. 01 c.124A>C - p.Met42Leu - - GenBank GLA_00240 - - - Qi Ming
./. 01 c.124A>G - p.Met42Val - - GenBank GLA_00160 - - - Qi Ming
./. 01 c.124A>G - p.Met42Val - - GenBank GLA_00160 - - - Qi Ming
./. 01 c.124_125delAT - p.Met42GlyfsX13 - - GenBank GLA_00425 - - - Qi Ming
./. 01 c.125T>C - p.Met42Thr - - GenBank GLA_00247 - - - Qi Ming
./. 01 c.125_137del13 - p.Met42ThrfsX75 - - GenBank GLA_00499 - - - Qi Ming
./. 01 c.127G>C - p.Gly43Arg - - GenBank GLA_00178 - - - Qi Ming
./. 01 c.127G>C - p.Gly43Arg - - GenBank GLA_00178 - - - Qi Ming
./. 01 c.128G>A - p.Gly43Asp - - GenBank GLA_00059 - - - Qi Ming
./. 01 c.128G>A - p.Gly43Asp - - GenBank GLA_00059 - - - Qi Ming
./. 01 c.131G>A - p.Trp44X - - GenBank GLA_00378 - - - Qi Ming
./. 01 c.131G>A - p.Trp44X - - GenBank GLA_00378 - - - Qi Ming
./. 01 c.131G>A - p.Trp44X - - GenBank GLA_00378 - - - Qi Ming
./. 01 c.132G>T - p.Trp44Cys G132T - GenBank GLA_00001 - - - Qi Ming
./. 01 c.136C>T - p.His46Tyr C to T transversion in exon 1 - GenBank GLA_00061 - - - Qi Ming
./. 01 c.137A>G - p.His46Arg - - GenBank GLA_00029 - an A-to-G transition at a CpG dinucleotide in codon 46, resulting in a histidine-to-arginine change (H46R); - Qi Ming
./. 01 c.137A>G - p.His46Arg - - GenBank GLA_00029 - - - Qi Ming
./. 01 c.137A>G - p.His46Arg - - GenBank GLA_00029 - - - Qi Ming
./. 01 c.139T>C - p.Trp47Arg - - GenBank GLA_00117 - - - Qi Ming
./. 01 c.139T>G - p.Trp47Gly T to G transversion in exon 1 - GenBank GLA_00440 - - - Qi Ming
./. 01 c.141G>A - p.Trp47X - - GenBank GLA_00346 - - - Qi Ming
./. 01 c.142G>A - p.Glu48Lys - - GenBank GLA_00313 - - - Qi Ming
./. 01 c.145C>G - p.Arg49Gly - - GenBank GLA_00179 - - - Qi Ming
./. 01 c.146G>C - p.Arg49Pro - - GenBank GLA_00194 - - - Qi Ming
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