Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase
by
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 Since its publication 30 additional variants have been discovered and many that were unpublished in the earlier tabulation have now appeared in print Since papers are published in this journal within less than two weeks of receipt, reprints are available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 |
Gaohe
Gaozhou | 95 A-->G | 95G | 32 His-->Arg | (4) |
| "Honiara" | 99 A-->G
1360 C-->T | 99G
13763T | 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) |
A--
Distrito Federal
"Matera"
Castilla
Alabama
Betica
Tepic
Ferrara
Laghout
Kabyle | 202 G-->A
376 A-->G | 10154A
10877G | 68 Val-->Met
126 Asn-->Asp | (11)
(12)
(10)
(12)
(13)
(14)
(12)
(15)
(16)
(16) |
| 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) |
Ube
Konan | 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 | (23) |
| 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 | 11713T
10877G | 181 Asp-->Val
126 Asn-->Asp | (35) |
| Tsukui | 561-563 del | 11732-11734 del | 188 or 189 Ser-->del | (22) |
Mediterranean
Dallas
Birmingham
"Sassari"
"Cagliari"
Panama | 563 C-->T | 11734T | 188 Ser-->Phe | (10)
(36)
(36)
(37)
(37)
(13) |
"Coimbra"
"Shunde" | 592 C-->T | 11763T | 198 Arg-->Cys | (38)
(39) |
| "Santiago" | 593 G-->C | 11764C | 198 Arg-->Pro | (40) |
| "Sibari" | 634 A-->G | 11805G | 212 Met-->Val | (41) |
Minnesota
Marion
Gastonia
"LeJeune" | 637 G-->T | 11808T | 213 Val-->Leu | (42)
(42)
(42)
(43) |
| 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 | 12028A
10877G | 227 Arg-->Leu
126 Asn-->Asp | (11) |
| "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) |
"Cleveland"
Corum | 820 G-->A | 12533A | 274 Glu-->Lys | (46)
(19) |
| Wexham | 833 C-->T | 12546T | 278 Ser-->Phe | (19) |
| "Chinese-1" | 835 A-->T | 12548T | 279 Thr-->Ser | (47) |
Seattle
Lodi
"Modena"
Ferrara II
Athens-like | 844 G-->C | 12557C | 282 Asp-->His | (37)
(48)
(49)
(50)
(51) |
| Osaka | 853 C-->T | 12566T | 285 Arg-->Cys | (9) |
| "Montalbano" | 854 G-->A | 12567A | 285 Arg-->His | (52) |
Viangchan
Jarnmu | 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) |
Kalyan
Kerala | 949 G-->A | 13109A | 317 Glu-->Lys | (53) |
A--
Betica
Selma
Guantanamo | 968 T-->C
376A-->G | 13128C
10877G | 323 Leu-->Pro
126 Asn-->Asp | (11)
(14)
(14)
(54) |
| "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) |
Iowa
Walter Reed
Iowa City
Springfield | 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 | 13458T
10877G | 387 Arg-->Cys
126 Asn-->Asp | (59) |
Beverly Hills
Genova
Worcester | 1160 G-->A | 13459A | 387 Arg-->His | (58)
(60)
(13) |
| "Praba" | 1166 A-->G | 13465G | 389 Glu-->Gly | (46) |
| Wisconsin | 1177 C-->G | 13476G | 393 Arg-->Gly | (57) |
Nashville
Anaheim
"Calgary"
"Portici" | 1178 G-->A | 13447A | 393 Arg-->His | (42)
(42)
(13)
(61) |
| 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) |
"Japan"
"Shinagawa" | 1229 G-->A | 13529A | 410 Gly-->Asp | (40)
(32) |
| 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) |
Telti
Kobe | 1318 C-->T | 13721T | 440 Leu-->Phe | (19)
(66) |
| "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) |
Union
Maewo | 1360 C T | 13763T | 454 Arg-->Cys | (47,67)
(41,64) |
| Andalus | 1361 G-->A | 13764A | 454 Arg-->His | (68) |
| "Cosenza" | 1376 G-->C | 13884C | 459 Arg-->Pro | (41) |
Canton
Taiwan-Hakka
Gifu-like
Agrigento-like | 1376 G-->T | 13884T | 459 Arg-->Leu | (69)
(70)
(69)
(69) |
| Kamiube | 1387 C-->T | 13895T | 463 Arg-->Cys | (33 |
Kaiping
Anant
Dhon
Petrich
Sapporo | 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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