GLDC


Glycine decarboxylase

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
NKH

Finnish Mutations
Mutation Consequence Amino acid change Reference sequence Articles
c.1691G>T S564I 1634607
c.2281G>C G761R


Foreign Mutations
Mutation Consequence Amino acid change Reference sequence Population Articles
1821-1831del 11-bp deletion started at the third letter of 607Gly codon, FS after codon 607/TRM at codon 669 Oriental 15192636
2656C>T Q886X Unknown 15670722
EX1-17del NT_008413 Caucasian 17361008
EX1-25del NT_008413 Caucasian 17361008
EX1-2del NT_008413 Caucasian 17361008
EX1-3del NT_008413 Oriental 17361008
EX12-15del NT_008413 Oriental 17361008
EX1del deletion including exon 1 NM_000170 Caucasian, Oriental 16450403
EX2-EX15del Unknown 15670722
EX3-21del NT_008413 Caucasian 17361008
EX3-22del NT_008413 Caucasian 17361008
EX3-4del NT_008413 Oriental 17361008
EX3-8del NT_008413 Oriental 17361008
EX3-9del NT_008413 Oriental 17361008
EX5-8del NT_008413 Caucasian 17361008
Ex1-16del NT_008413 Pakistani 17361008
Ex1-2del=2 NT_008413 Caucasian 17361008
Ex1del=2 NT_008413 Caucasian 17361008
Ex9del NT_008413 Caucasian 17361008
IVS18-2A>G The base A at position )2 of the 30 (acceptor) splice site Hispanic 12126939
Sellner-1 Unknown 15670722
W805X consensus is invariant [12] so that a mutation of this base will likely result in skipping of exon 19 and other mis-splicing events W805X white American 12402263
c.1002_1003insT A335fs NM_000170.1 Croatian 16601880
c.1009C>T R337X NM_000170.1 German 16601880
c.1054delA The deleted A is at position 1054 of the cDNA and this results in a frameshift from T352 near the exon 7/intron 7 boundary and the creation of a premature stop codon at codon 416 in exon 9.The mutation does not alter the consensus sequence at the exon 7/intron 7 boundary. Mixed Northern European 12126939
c.1111C>G H371D Taiwanese 18581728
c.1117C>T R373W NM_000170.1 French 16601880
c.1166C>T A389V NM_000170 Caucasian 15824356
c.1175delC A392fs NM_000170.1 French 16601880
c.1229G>A R410K First Nations 12126939
c.1270C>T R424X German
c.1285_1286insCAAA L429fs NM_000170.1 Swiss 16601880
c.1319T>A I440N NM_000170.1 French 16601880
c.1382G>A R461Q Turkish
c.1401-1C>G mis-splicing, intron 10 NM_000170.1 French 16601880
c.1443insG FS at codon 482/TRM at codon 491 NM_000170 Caucasian 16450403
c.1545G>C R515S Unknown 10873393, 11286506
c.1595C>G T532R NM_000170 Caucasian 16450403
c.1597A>T N533Y NM_000170.1 French 16601880
c.1705G>A A569T NM_000170 Caucasian 16450403
c.176G>C R59T NM_000170 Black 16450403
c.1786C>T R596X NM_000170 Caucasian 16450403
c.1832T>G V611G NM_000170 Caucasian 16450403
c.1926+1G>A disruption of splicing donor site, ag>gg, intron 17 NM_000170 Oriental 16450403
c.1931G>T C644F NM_000170.1 German 16601880
c.1952A>G H651R NM_000170.1 Spanish 16601880
c.1996C>T Q666X NM_000170 Caucasian 16450403
c.2080G>C A694P NM_000170 Oriental 16450403
c.2098C>G P700A Unknown 12126939
c.2105C>T S701F NM_000170 Oriental 16450403
c.2113G>A V705M NM_000170.1 French 16601880
c.2153 2155delinsTCCTGGTTTA H718fs NM_000170.1 Moroccan 16601880
c.2182G>C G728R NM_000170 Oriental 16450403
c.2186delC A729fs NM_000170.1 French 16601880
c.2196T>A N732K NM_000170.1 French 16601880
c.2203-2A>G disruption of splicing acceptor site, ag>gg, intron 18 NM_000170 Caucasian 16450403
c.2213_2214delGT FS after codon 738/TRM at codon 745 NM_000170 Oriental 16450403
c.2216A>G R739H NM_000170 Caucasian 15824356
c.2258A>C H753P NM_000170 Oriental 16450403
c.2266_2268delTTC F756del Japanese 1996985
c.2284G>A G762R Hispanic 12126939
c.2293C>T P765S NM_000170 Caucasian 16450403
c.2306C>T P769L NM_000170 Oriental 16450403
c.2311G>A G771R NM_000170 German, Caucasian, Oriental
c.2315-1G>A mis-splicing, intron 19 NM_000170.1 German 16601880
c.2324A>G H775R NM_000170.1 German 16601880
c.2368C>T R790W Oriental 15192636
c.2405C>T A802V Moslem Palestinians 15236413
c.2422delA S808fs NM_000170.1 French 16601880
c.245T>G L82W Oriental 15192636
c.2489C>T T830M NM_000170.1 German, Swiss 16601880
c.2519T>A M840K NM_000170 Caucasian 16450403
c.2521G>C A841P NM_000170.1 French 16601880
c.255+1G>A disruption of splicing donor site, gt>at, intron 2 NM_000170 Caucasian, Oriental 16450403
c.2574T>G Y858X NM_000170 Oriental 16450403
c.2607C>A Three aberrantly spliced cDNA species were identified: exon 22 and exon 22 to 23 skipping, and insertion of an 87-base pair cryptic exon Israeli-Bedouin 15851735
c.2639A>T D880V NM_000170.1 French 16601880
c.2665+1G>C disruption of splicing donor site, gt>ct, intron 22 NM_000170 Black, Caucasian 16450403
c.2714T>G V905G NM_000170 Caucasian 16450403
c.2838+5G>A mis-splicing, intron 23 NM_000170.1 French 16601880
c.2839-1G>C disruption of splicing acceptor site, ag>cg, intron 23 NM_000170 Oriental 16450403
c.2846C>T P949L NM_000170 Oriental 16450403
c.2869T>C S957P NM_000170.1 French/Vietnamese 16601880
c.2891insA insertion of A after second letter of 964Tyr codon, no FS/TRM at codon 964 NM_000170 Black 16450403
c.2896A>G R966G NM_000170.1 Spanish 16601880
c.28delC L10fs NM_000170.1 German 16601880
c.2919+1G>A mis-splicing, intron 24 NM_000170.1 French 16601880
c.2T>C M1T Israel-Arab 15864413
c.395C>G S132W NM_000170.1 Turkish 16601880
c.413A>T Y138F NM_000170.1 German 16601880
c.449A>C N150T Oriental 15192636
c.457G>T E153X NM_000170.1 German 16601880
c.482A>G Y161C Palestinian Arab 16404748
c.513G>C G171A NM_000170.1 Swiss 16601880
c.560C>A T187K NM_000170.1 Turkish 16601880
c.635G>A R212K NM_000170.1 French 16601880
c.706C>T R236X NM_000170.1 French 16601880
c.793delC FS after codon 264/TRM at codon 296 NM_000170 Caucasian 16450403
c.806C>T T269M NM_000170 more than one centre 15272469, 16450403
c.808G>T E270X NM_000170.1 French 16601880
c.847G>C A283P Newfoundland 12126939
c.861+1G>T mis-splicing, intron 6 NM_000170.1 Moroccan 16601880
c.887T>G L296R NM_000170 Oriental 16450403
c.937G>C A313P Puerto Rican 12126939
c.985C>A P329T Indian 12126939
c.EX1_2del Deletion of exons 1-2 Caucasian 10798358
c.EX1_3del Deletion of exons 1-3 Japanese 10798358
c.EX1del Hungarian 12402263
del ex 4-25 NM_000170.1 Turkish 16601880
del>ex1 NM_000170.1 French 16601880