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Retina International's Scientific Newsletter |
|
Mutation Database Mutations of the Tyrosinase Gene |
Recent update from: 23.06.02
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
|
|
The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as used in most of the recent publications of TYR mutations. |
|
|
|
|||||
| OCA1A | Deletion Exon1 | 0001 | 1 |
Compound:
|
|
|
(4) | ||
| AROA | Met 1 Val | ATG-GTG | 0001 | 1 |
Compound:
complete loss of activity |
CM981972 |
|
(5)
(1) |
|
| OCA1A | Met 1 Thr | ATG-ACG | 0002 | 1 |
|
CM981972 |
|
||
| OCA1B | 24delC | TGC CTG-TG_ CTG | 0024 | 1 |
No compound |
CD972506 |
|
(23) | |
| OCA1A | 52delG | GCT GGC-GCT G_C | 0052 | 1 |
Heterozygous No compound |
CD982992 |
|
(13)
To online reference |
|
| OCA1A | His 19 Gln | CAT-CAA | 0057 | 1 |
Heterozygous No compound |
CM981973 |
|
(13)
To online reference |
|
| OCA1A | Pro 21 Ser | CCT-TCT | 0061 | 1 |
|
CM920692 |
|
(15)
(14) (21) (20) |
|
| OCA1 | Cys 36 Tyr | TGT-TAT | 0107 | 1 |
|
CM992224 |
|
(18) | |
| OCA1A | Asp 42 Gly | GAC-GGC | 0125 | 1 |
|
CM910379 |
|
(15)
(14) (21) (20) |
|
| OCA1A | Gly 47 Asp | GGC-GAC | 0140 | 1 | -HaeIII |
Homozygous Compound:
|
CM930711 |
|
(16)
(14) (15) (21) (3) (20) |
| OCA1A | Ser 50 ter | TCA-TGA | 0149 | 1 |
Homozygous |
CM941343 |
|
(6) | |
| OCA1A | Arg 52 Ile | AGA-ATA | 0155 | 1 |
Heterozygous Compound:
|
CM981974 |
|
(13)
To online reference |
|
| AROA | Cys 55 Tyr | TGT-TAT | 0164 | 1 |
Compound:
|
CM910380 |
|
(5)
(14) (20) |
|
| OCA1A | Cys 55 Tyr | TGT-TAT | 0165 | 1 |
Disrupts disulfide bond or elminates copper binding Compound:
|
CM910380 |
|
(15)
(21) (30) (2) (5) To online reference |
|
| OCA1B | 223delG | GTG GAT-GTG _AT | 0222 | 1 |
Heterozygous No compound |
CD982993 |
|
(13)
To online reference |
|
| OCA2 | Arg 77 Trp | CGG-TGG | 0229 | 1 |
Compound:
|
CM900220 |
|
(18) | |
| OCA1B | Arg 77 Trp | CGG-TGG | 0229 | 1 |
Heterozygous Compound:
reported as R77C (CGG-TGT) |
CM971542 |
|
(13)
(23) To online reference |
|
| OCA2 | Arg 77 Gln | CGG-CAG | 0230 | 1 | -MspI |
Compound:
|
CM900220 |
|
(18)
(3) |
| OCA1A | Arg 77 Gln | CGG-CAG | 0230 | 1 | -MspI |
Compound:
|
CM900220 |
|
(15)
(14) (21) (20) (26) (17) (18) (12) |
| OCA1B | Glu 78 ter | GAG-TAG | 0232 | 1 |
Compound:
|
CM971543 |
|
(23) | |
| OCA1A | Glu 78 ter | GAG-TAG | 0232 | 1 |
Compound:
|
CM971543 |
|
(23) | |
| OCA1 | 232insGGG | CGG GAG - CGG GGG GAG | 0232 | 1 |
|
|
|
(30)
To online reference |
|
| OCA1A | Trp 80 Arg | TGG-CGG | 0238 | 1 |
Compound:
|
CM971544 |
|
(23) | |
| OCA1A | Trp 80 ter | TGG-TGA | 0240 | 1 |
Heterozygous Compound:
|
CM981975 |
|
(13)
(3) To online reference |
|
| OCA1A | Pro 81 Leu | CCT-CTT | 0242 | 1 |
Homozygous Compound:
|
CM900221 |
|
(8)
(23) (16) (14) (18) (15) (21) |
|
| OCA1 | Cys 89 Arg | TGC-CGC | 0265 | 1 | -BsrI |
Resides in critical domain (C-G-N-C) conserved in TYR of different species and in TRP1 and TRP2 unprocessed and misfolded glycoform remains in ER possibly involved in C-C bonds |
CM910381 |
|
(24)
(20) (14) (15) (21) (10) |
| OCA1A | 286insA | TTC ATG- TTC AAT G | 0286 | 1 |
|
CI910577 |
|
(15)
(14) (21) (20) |
|
| OCA1A | Gly 97 Arg | GGA-AGA | 0289 | 1 |
Heterozygous Compound:
|
CM981976 |
|
(13)
(18) To online reference |
|
| OCA | Gly 109 Arg | GGA-AGA | 0325 | 1 |
Possibly affects protein interactions and glycosylation Compound:
|
|
|
(3)
To online reference |
|
| OCA | 336delCA | TGC ACA GGA-TG_ _CA | 0336 | 1 |
Compound:
|
CD931054 |
|
(3)
To online reference |
|
| OCA1A | 340delGA | ACA GAG AGA CGA-ACA __G AGA CGA | 0340 | 1 |
Homozygous Compound:
|
CD931054 |
|
(15)
(21) (18) |
|
| OCA1A | Arg 116 ter | CGA-TGA | 0346 | 1 |
Heterozygous No compound |
CM981977 |
|
(13)
To online reference |
|
| OCA1 | Pro 152 Ser | CCC-TCC | 0456 | 1 |
Compound:
|
CM941344 |
|
(6)
(21) |
|
| OCA1 | 459insT | ATA GGG - ATT AGGG | 0459 | 1 |
Compound:
|
CI992295 |
|
(18) | |
| OCA1 | Phe 176 Ile | TTT-ATT | 0526 | 1 |
|
CM930712 |
|
(16)
(14) (15) (21) |
|
| OCA1 | Trp 178 ter | TGG-TAG | 0533 | 1 | +XbaI |
|
CM910382 |
|
(7)
(14) (15) (21) (20) |
| OCA1A | 571delG | CTT GGG GGA-CTT _GG GGA | 0568 | 1 |
|
CD910558 |
|
(15)
(14) (21) (20) |
|
| Polymorphism | Ser 192 Tyr | TCT-TAT | 0575 | 1 | -DpnI, +MspI |
Compound:
|
|
|
(15)
(14) (21) (20) (18) |
| OCA | Pro 205 Thr | CCA-ACA | 0613 | 1 |
Impairs copper-binding |
|
|
(3)
To online reference |
|
| OCA1 | Ala 206 Thr | GCT-ACT | 0616 | 1 | -AluI |
|
CM910383 |
|
(11)
(14) (15) (20) |
| OCA1 | Leu 216 Met | TTG-ATG | 0646 | 1 |
Compound:
|
CM930713 |
|
(16)
(14) (15) (21) |
|
| OCA | 649delC | TTG CGG-TTG _GG | 0649 | 1 |
Compound:
|
CD941801 |
|
(21)
(18) |
|
| OCA1A | Arg 217 Gly | CGG-GGG | 0649 | 1 | -AciI |
Compound:
|
CM971545 |
|
(23)
(22) |
| OCA2 | Arg 217 Trp | CGG-TGG | 0649 | 1 | -AciI |
Compound:
|
CM920693 |
|
(18)
(14) (20) |
| OCA1 | Arg 217 Trp | CGG-TGG | 0649 | 1 | -AciI |
Compound:
|
CM920693 |
|
(29)
(15) (14) (21) (18) |
| OCA1 | Arg 217 Gln | CGG-CAG | 0650 | 1 | -AciI |
Compound:
|
CM930714 |
|
(14)
(15) (21) (18) |
| OCA | 678delAGG | ACA GGA-AC_ __A | 0678 | 1 |
Compound:
|
|
|
(3)
To online reference |
|
| OCA1 | Trp 236 ter | TGG-TAG | 0707 | 1 |
Homozygous |
CM930715 |
|
(16)
(20) (14) (15) (21) |
|
| OCA1 | Trp 236 Ser | TGG-TCG | 0707 | 1 |
Compound:
|
CM930715 |
|
(18) | |
| OCA1A | 730delTG | AAG TGT GAC-AAG __T GAC | 0730 | 1 |
Compound:
|
CD910559 |
|
(15)
(14) (21) (20) (18) (4) |
|
| OCA1A | Gly 253 Arg | GGA-AGA | 0757 | 1 | -MnlI |
Homozygous |
CM971546 |
|
(23) |
| OCA | His 256 Tyr | CAC-TAC | 0766 | 1 |
|
|
|
(3)
To online reference |
|
| OCA1 | Trp 272 Cys | TGG-TGC | 0816 | 1 |
Compound:
|
CM992226 |
|
(18) | |
| OCA1 | IVS1-3c-g | acag - agag | 0820 | 2 |
Abberant splicing |
|
|
(30)
To online reference |
|
| OCA1 | Val 275 Phe | GTC-TTC | 0823 | 2 |
|
CM910384 |
|
(9)
(14) (20) |
|
| OCA1B | Val 275 Phe | GTC-TTC | 0825 | 2 |
Compound: R77W IVS2-1g-a |
CM910384 |
|
(23)
(15) (3) |
|
| OCA1 | Arg 278 ter | CGA-TGA | 0832 | 2 |
|
CM930716 |
|
(28)
(6) (21) (20) |
|
| OCA1 | 840delG | GAG GAG-GA_ GAG | 0840 | 2 |
Homozygous |
CD992281 |
|
(18) | |
| OCA1 | 871delTT | TCT TTA - TC_ _TA | 0871 | 2 |
|
|
|
(30)
To online reference |
|
| OCA1A | 871delT | TCT TTA-TC_ TTA | 0871 | 2 |
Compound:
|
CD931055 |
|
(17)
(20) |
|
| OCA1A | Cys 289 Arg | TGC-CGC | 0875 | 2 |
Heterozygous Compound: M1T G446S |
CM992227 |
|
(13)
(18) To online reference |
|
| OCA1 | Cys 289 Gly | TGC-GGC | 0875 | 2 |
Disrupts disulfide bond, affecting protein folding and/or stability |
|
|
(30)
To online reference |
|
| OCA1 | Glu 294 Lys | GAG-AAG | 0890 | 2 |
Compound:
|
CM941345 |
|
(6)
(18) (3) |
|
| OCA1 | Glu 294 Gly | GAG-GGG | 0891 | 2 |
Compound:
|
CM9992227 |
|
(18) | |
| OCA1 | Arg 299 Ser | CGT-AGT | 0895 | 2 |
Homozygous Disrupts copper binding |
CM971547 |
|
(23)
(30) (14) (20) To online reference |
|
| OCA1A | Arg 299 His | CGT-CAT | 0896 | 2 |
Heterozygous Compound:
Disrupts copper binding |
CM920694 |
|
(29)
(15) (6) (21) (17) (31) To online reference |
|
| OCA1 | Arg 299 His | CGT-CAT | 0896 | 2 |
|
CM920694 |
|
(17) | |
| OCA1A | 926insC | AGA ACC CCA AGG-AGA ACC CCC AAG G | 0926 | 2 |
Compound:
|
CI910578 |
|
(15)
(14) (21) (20) (30) (17) (27) (29) |
|
| OCA1A | Leu 312 Val | CTC-GTC | 0934 | 2 |
Heterozygous Compound:
|
CM981979 |
|
(13)
To online reference |
|
| OCA1A | Pro 313 Arg | CCC-CGC | 0938 | 2 |
Heterozygous Compound:
|
CM981980 |
|
(13)
To online reference |
|
| OCA1B | Thr 325 Ala | ACC-GCC | 0973 | 2 |
No compound |
CM971548 |
|
(23) | |
| OCA1 | Glu 328 Gln | GAA-CAA | 0982 | 2 | -HinfI |
|
CM930717 |
|
(28)
(21) (20) |
| OCA1A | Ser 339 Gly | AGC-GGC | 1015 | 2 | -AluI |
No compound |
CM971549 |
|
(23)
(3) |
| OCA1B | Phe 340 Leu | TTT-CTT | 1018 | 2 |
Heterozygous No compound |
CM981981 |
|
(13)
To online reference |
|
| OCA1B | IVS2-10deltt-7t-a | tttttaatgaa-ttt__aaagaa | 1037 | IVS2 |
Compound:
|
|
|
(17) | |
| OCA1B | IVS2-7t-a | ttttgt-tttagt | 1037 | IVS2 |
Compound:
|
CS930868 |
|
(23)
(21) (18) (20) (19) |
|
| OCA1B | IVS2-1g-a | cagAT-caaAT | 1037 | IVS2 |
Compound:
|
CS971924 |
|
(23) | |
| OCA1B | Ala 355 Pro | GCG-CCG | 1063 | 3 | -AciI |
Compound:
|
CM971550 |
|
(23)
(21) (20) (18) (3) |
| OCA1A | Gln 359 ter | CAA-TAA | 1075 | 3 |
Compound:
|
CM971551 |
|
(23) | |
| OCA1A | Ser 361 Arg | AGC-CGC | 1081 | 3 |
|
|
|
(25) | |
| OCA1A | His 367 Arg | CAC-CGC | 1100 | 3 |
|
|
|
(15) | |
| OCA1 | His 367 Tyr | CAC-TAC | 1100 | 3 |
|
CM941346 |
|
(1) | |
| OCA1 | Met 370 Thr | ATG-ACG | 1109 | 3 |
No Activity Compound:
|
CM941347 |
|
(1) | |
| OCA1A | Asn 371 Tyr | AAT-TAT | 1111 | 3 |
Compound:
|
CM992228 |
|
(18)
(14) (25) |
|
| OCA1A | Asn 371 Thr | AAT-ACT | 1112 | 3 |
Compound:
|
CM930718 |
|
(16)
(15) (21) (20) |
|
| OCA1A | Thr 373 Lys | ACA-AAA | 1118 | 3 |
Compound:
destroys glycosylation site at N371 retained in ER |
CM900222 |
|
(23)
(20) (16) (14) (15) (18) (6) (21) (3) (10) (1) |
|
| OCA1A | Gln 376 ter | CAG-TAG | 1126 | 3 | -MvaI |
|
CM930719 |
|
(21)
(20) |
| OCA1A | Gln 378 ter | CAG-TAG | 1132 | 3 | -Csp6I |
|
CM920695 |
|
(15)
(14) (20) |
| OCA1B | Ser 380 Pro | TCT-CCT | 1138 | 3 | -DpnI |
Compound:
|
CM971553 |
|
(23)
(20) |
| OCA1A | Asn 382 Lys | AAC-AAA | 1146 | 3 |
|
CM920696 |
|
(15)
(21) (14) (20) |
|
| OCA1A | Asp 383 Asn | GAT-AAT | 1147 | 3 | -DpnI |
|
CM900223 |
|
(15)
(21) (3) (20) (17) (14) |
| OCA1A | 1161delT | TTC CTT CTT-TTC C_T CTT | 1160 | 3 |
|
|
|
(15) | |
| OCA2 | 1163delT | CTT CAC-C_T CAC | 1163 | 3 |
|
CD920914 |
|
(29)
(18) (20) |
|
| OCA1B | His 390 Asp | CAT-GAT | 1168 | 3 | -NlaIII |
Compound:
|
CM971553 |
|
(23)
(21) (20) |
| OCA1A | Ser 395 Asp | AGT-AAT | 1183 | 4 |
Compound:
|
CM971554 |
|
(23) | |
| OCA1 | Trp 400 Leu | TGG-TTG | 1199 | 4 |
Disrupts copper binding |
|
|
(30)
To online reference |
|
| OCA1A | Arg 402 ter | CGA-TGA | 1204 | 4 |
Homozygous |
CM941348 |
|
(6)
(21) (18) (20) |
|
| Polymorphism | Arg 402 Gln | CGA-CAA | 1205 | 4 |
Temperature sensitive variant with permissive temperature at 32 C and non-permissive at 37 C At non permissive temperature retained in the ER bound to calnexin Compound:
|
CM971555 |
|
(15)
(21) (20) |
|
| AROA | Arg 402 Gln | CGA-CAA | 1205 | 4 |
Temperature sensitive variant with permissive T at 32 C and non-permissive T at 37 C (27% activity of WT) Compound:
|
CM971555 |
|
(10)
(5) (1) (14) (20) |
|
| OCA1B | Arg 403 Ser | AGG-AGT | 1209 | 4 |
Compound:
|
CM981982 |
|
(15)
(14) (21) (20) (18) |
|
| OCA1A | His 404 Pro | CAC-CCC | 1211 | 4 |
Heterozygous Compound:
|
CM910385 |
|
(13)
To online reference |
|
| OCA1B | Pro 406 Leu | CCT-CTT | 1217 | 4 |
|
CM910386 |
|
(15)
(14) (21) (20) (18) |
|
| OCA1A | Gly 419 Arg | GGA-AGA | 1255 | 4 |
Homozygous |
CM910386 |
|
(15)
(14) (21) (20) (18) |
|
| OCA1TS | Arg 422 Gln | CGG-CAG | 1265 | 4 |
Compound:
|
CM910687 |
|
(15)
(14) (21) (20) (18) (2) |
|
| OCA1A | Pro 431 Leu | CCA-CTA | 1292 | 4 |
|
CM930720 |
|
(21)
(20) |
|
| OCA1A | 1314delCTTT | TTC TTT ATT-TT_ ___ ATT | 1314 | 4 |
|
CD920915 |
|
(15)
(14) (21) |
|
| OCA1A | 1315delTTTinsC | TTC TTT ATT-TTC CAT T | 1314 | 4 |
|
CD920915 |
|
(2) | |
| OCA1 | Phe 439 Val | TTT-GTT | 1315 | 5 |
Compound:
|
CM992229 |
|
(18) | |
| OCA1A | Gly 446 Ser | GGC-AGC | 1336 | 4 |
Compound:
|
CM920698 |
|
(23)
(20) (15) (14) (18) (3) |
|
| OCA1A | Asp 448 Asn | GAC-AAC | 1342 | 4 |
Homozygous Compound:
|
CM920699 |
|
(23)
(20) (15) (14) (18) |
|
| OCA1A | Gln 453 ter | CAA-TAA | 1357 | 4 |
|
CM920700 |
|
(15)
(14) |
|
| OCA1B | IVS4+5a-g | aaa gt-aag gt | 1366 | IVS4 |
No compound |
CS971925 |
|
(23) | |
| OCA1B | IVS4+4a-g | aaa gt-aga gt | 1366 | IVS4 |
|
|
|
(20) | |
| OCA1A | 1467insT | ACT-ACTT | 1467 | 5 |
|
CI910578 |
|
(15)
(20) (14) (21) |
|
| OCA1A | 1501insC | CGT-CCGT | 1501 | 5 |
|
CI910579 |
|
(15)
(14) (21) (20) |
|
| Polymorphism | -301c/t | aacct-aatct | -301 | 5'UTR |
|
|
|
(14) | |
| Polymorphism | -199c/a | tcgaa-tagaa | -199 | 5'UTR |
|
|
|
(14) | |
| Polymorphism | -658del c | tgcag ctatc-tg_ag ctatc | -658 | 5'UTR |
|
|
|
(12) | |
| Polymorphism | -682ins g | tgaac aaatc-tgaag caaatc | -682 | 5'UTR |
|
|
|
(12) | |
| Polymorphism | -691ins c | tatcc cacaa-tatcc ccaca a | -691 | 5'UTR |
|
|
|
(12) | |
| Polymorphism | -801ins gagagggaga | gaggg agagg-gaggg gagag ggaga agagg | -801 | 5'UTR |
|
|
|
(12) | |
| Polymorphism | -961del g | gaggg ggaga-gaggg g_aga | -961 | 5'UTR |
|
|
|
(12) |
References
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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