Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase


Ernest Beutler 1 , Tom Vulliamy 2 , Lucio Luzzatto 3

1 Reprint requests to: Ernest Beutler, M.D., The Scripps Research Institute, Department of Molecular and Experimental Medicine, 106667 North Torrey Pines Road, La Jola, California 92037 USA, phone (619) 554-8040, fax (619) 554-6927, e-mail: beutler@scripps.edu;

2 Department of Haematology, Royal Postgraduate Medical School, Du Cane Road, London UK, phone 44 181 743 2030, fax 44 181 742 9335, e-mail: t.vulliamy@rpms.ac.uk;

3 Department of Human Genetics, Schwartz Building, Room 917, 1275 York Avenue, New York, New York USA, phone (212) 639-6165, fax (212) 717-3374, e-mail: l-luzzatto@ski.mskcc.org.

Editor's note: The pace at which mutations are being found has become so rapid that the publication of up-to-date tabulations has become impossible using conventional means. For example, the last comprehensive publication of glucose-6-phosphate dehydrogenase variants (reference 2 in the present paper) was submitted for publication on June 1994 and published in December of 1994. Since its publication 30 additional variants have been discovered and many that were unpublished in the earlier tabulation have now appeared in print Since papers are published in this journal within less than two weeks of receipt, reprints are available in 2 weeks, and the printed version is on library shelves within an average of 3 months, it provides an ideal medium for publication in such a rapidly moving field.

Updated registries of some mutations are beginning to appear on the internet, and eventually this may be the common means for providing access to mutations. In the meanwhile, the publication of up-to-date, authoritative lists of mutations in Blood Cells, Molecules and Diseases can fill the need. The commentaries that we encourage and publish provide an opportunity for these tabulations to be updated and, where needed, corrected by the readers These corrections will also appear on the internet and in the journal and become a part of the permanent record documenting the mutations covered. We encourage colleagues who are maintaining mutation databases to submit them to us for rapid publication. In this way we hope to provide those interested in the genetics of hematologic disease with a readily available and very up-to-date source of information concerning what mutations have been found and where more information can be obtained about them.

A total of 97 mutations or combination of mutations of the X-linked gene for glucose-6-phosphate dehydrogenase are now known to us Previous tabulations, providing somewhat more detailed information about these mutations (1,2) and comprehensive reviews of the deficiency (2,3) may be found in the cited sources and in OMIM on the World Wide Web (http://www3.LlS.ncbi.nlm.nih.gov/htbin-post/Omim/Dispmim?305900).

The cDNA numbers shown in the table are based on the Genbank sequence with the accession number X03674 and the genomic numbers on the sequence with accession number X55448. In each case the A of the ATG start codon is numbered +1. Note that this numbering is different from that used in the GenBank files. It is necessary to subtract 470 from the GenBank cDNA sequence and 3350 from the GenBank genomic sequence to standardize these sequences to begin at the start codon.

Table: G6PD variants that have been characterized at the DNA level

Variant Name* cDNA Nucleotide Substitution Genomic Nucleotide Substitution Amino Acid Substitution References
95 A-->G 95G 32 His-->Arg (4)
"Honiara" 99 A-->G
1360 C-->T
33 lle-->Met (5)
"Sunderland" 105-107 del 105-107 del 105-107 del (6)
"Orissa" 131 C-->G 9988G 44 Ala-->Gly (7)
"Aures" 143 T-->C 10000C 48 Ile-->Thr (8)
"Kozukata" 159 G-->C 1011lC 53 Trp-->Cys (9)
"Kamogawa" 169 C-->T 10121T 57 Arg-->Trp (9)
Metaponto 172 G-->A 10124A 58 Asp-->Asn (10)
Distrito Federal
202 G-->A
376 A-->G
68 Val-->Met
126 Asn-->Asp
Namoru 208 T-->C 10160C 70 Tyr-->His (17)
Murcia 209 A-->G 10161G 70 Tyr-->Cys (18)
Swansea 224 T-->C 10176C 75 Leu-->Pro (19)
241 C-->T 10193T 81 Arg-->Cys (20)
"Lagosanto" 242 G-->A 10194A 81 Arg-->His (21)
Urayasu 281-283 AGA del 10782-10784 94 Lys del (22)
"Vancouver " 317 C-->G
544 C-->T
592 C-->T
10818G 106 Ser-->Cys
182 Arg-->Trp
198 Arg-->Cys
Sao Borja 337 G-->A 10838A 113 Asp-->Asn (24)
A 376 A-->G 10877G 126 Asn Asp (25)
Vanua Lava 383 T-->C 10884C 128 Leu-->Pro (17)
"Chinese-4" 392 G-->T 10893T 131 Gly-->Val (26)
"Cairo" 404 A-->C 10905C 135 Asn-->Thr (27)
"Ilesha" 466 G-->A 10967A 156 Glu-->Lys (10)
Mahidol 487 G-->A 11658A 163 Gly-->Ser (28)
Plymouth 488 G-->A 11659A 163 Gly-->Asp (19)
"Chinese-3" 493 A-->G 11664G 165 Asn-->Asp (29)
Naone 497 G-->A 11668A 166 Arg-->His (17)
"Volendam" 514 C-->T 11684T 172 Pro-->Ser (30)
"Nankang" 517 T-->C 11687C 173 Phe-->Leu (31)
"Shinshu" 527 A-->G 11698G 176 Asp-->Gly (32)
Chikugo 535 A-->T 11706T 179 Ser-->Cys (33)
Malaga 542 A-->T 11713T 181 Asp-->Val (34)
Santamaria 542 A-->T
376 A-->G
181 Asp-->Val
126 Asn-->Asp
Tsukui 561-563 del 11732-11734 del 188 or 189 Ser-->del (22)
563 C-->T 11734T 188 Ser-->Phe (10)
592 C-->T 11763T 198 Arg-->Cys (38)
"Santiago" 593 G-->C 11764C 198 Arg-->Pro (40)
"Sibari" 634 A-->G 11805G 212 Met-->Val (41)
637 G-->T 11808T 213 Val-->Leu (42)
Harilaou 648 T-->G 11996G 216 Phe-->Leu (44)
"Mexico City" 680 G-->A 12028A 227 Arg-->Gln (40)
A-- 680 G-->T
376 A-->G
227 Arg-->Leu
126 Asn-->Asp
"Asahikawa" 695 G-->A 12043A 232 Cys-->Tyr (33)
Durham 713 A-->G 12061G 238 Lys-->Arg (45)
"Stonybrook" 724-729 GGCACT del 12072-12077 242-243 Gly&Thr del (46)
Wayne 769 G C 12117C 257 Arg-->Gly (43)
820 G-->A 12533A 274 Glu-->Lys (46)
Wexham 833 C-->T 12546T 278 Ser-->Phe (19)
"Chinese-1" 835 A-->T 12548T 279 Thr-->Ser (47)
Ferrara II
844 G-->C 12557C 282 Asp-->His (37)
Osaka 853 C-->T 12566T 285 Arg-->Cys (9)
"Montalbano" 854 G-->A 12567A 285 Arg-->His (52)
871 G-->A 13031A 291 Val-->Met (43)
"West Virginia" 910 G-->T 13070T 303 Val-->Phe (46)
Seoul 916 G-->A 13076A 306 Gly-->Ser (33)
949 G-->A 13109A 317 Glu-->Lys (53)
968 T-->C
323 Leu-->Pro
126 Asn-->Asp
"Nara" 953-976 del 13113-13136 del 319-326 del (55)
Chatham 1003 G-->A 13163A 335 Ala-->Thr (10)
"Fushan" 1004C-->A 1 13164A 335 Ala-->Asp (46)
"Chinese-5" 1024 C-->T 13184T 342 Leu-->Phe (26)
Partenope 1052G-->T 13351T 351 Gly-->Val (56)
"Ierapetra" 1057 C-->T 13356T 353 Pro-->Ser (40)
Loma Linda 1089 C-->A 13388A 363 Asn-->Lys (42)
Calvo Mackenna 1138 A-->G 13437G 380 Ile-->Val (57)
Riley 1139 T-->C 13438C 380 Ile-->Thr (57)
"Olomouc" 1141 T-->C 13440C 381 Phe-->Leu (46)
Tomah 1153 T-->C 13452C 385 Cys-->Arg (10)
Walter Reed
Iowa City
1156 A-->G 13455G 386 Lys-->Glu (58)
Guadalajara 1159 C-->T 13458T 387 Arg-->Cys (40)
"Mt. Sinai" 1159 C-->T
376 A-->G
387 Arg-->Cys
126 Asn-->Asp
Beverly Hills
1160 G-->A 13459A 387 Arg-->His (58)
"Praba" 1166 A-->G 13465G 389 Glu-->Gly (46)
Wisconsin 1177 C-->G 13476G 393 Arg-->Gly (57)
1178 G-->A 13447A 393 Arg-->His (42)
Alhambra 1180 G-->C 13479C 394 Val-->Leu (40)
"Bari" 1187 C-->T 13486T 396 Pro-->Leu (62)
"Puerto Limon" 1192 G-->A 13491A 398 Glu-->Lys (35)
"Anadia" 1193 A-->G 13492G 398 Glu-->Gly (63)
Clinic 1215 G-->A 13514A 405 Met-->Ile (64)
Riverside 1228 G-->T 13527T 410 Gly-->Cys (58)
1229 G-->A 13529A 410 Gly-->Asp (40)
Tokyo 1246 G-->A 13545A 416 Glu-->Lys (19,65)
"Georgia" 1284 C-->A 13560A 428 Tyr-->End (46)
''Vansdorf" 3' intron 10 splice site del 13689-13690 del N/A (46)
Pawnee 1316 G-->C 13719C 439 Arg-->Pro (40)
1318 C-->T 13721T 440 Leu-->Phe (19)
"Santiago de Cuba" 1339 G-->A 13742A 447 Gly-->Arg (10)
"S. Antioco" 1342 A-->G 13745G 448 Ser-->Gly (56)
"Cassano" 1347 G-->C 13750C 449 Gln-->His (41)
1360 C T 13763T 454 Arg-->Cys (47,67)
Andalus 1361 G-->A 13764A 454 Arg-->His (68)
"Cosenza" 1376 G-->C 13884C 459 Arg-->Pro (41)
1376 G-->T 13884T 459 Arg-->Leu (69)
Kamiube 1387 C-->T 13895T 463 Arg-->Cys (33
1388 G-->A 13896A 463 Arg-->His (70)
"Fukaya" 1462 G-->A 14067A 488 Gly-->Ser (33)
"Campinas" 1463 G-->T 14068T 488 Gly-->Val (71)

* According to established convention the names of variants that have not been fully characterized by standardized techniques (72,73) are enclosed in quotes.


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