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DATABASES

Mutation Databases

Tyrosinase

Recent update from: 16.05.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.

Mutation Map

TYR Mutation Map

NCBI GenBank: 7299 - Gen Map (Built: GRCH37): 88911040-89028926

doublehelixThe sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the first nucleotide of the starting Methionine codon.
Phenotype
Mutation
Basechange
Codon (Nucleotide)
Exon
Restriction site
HGMD / dbSNP
OMIM
Remarks
Reference
SNP c.-5g>a aggaa>agaaa 0000 (c.-0005) 5'UTR




dbSNP
Polymorphism c.-199c>a tcgaa>tagaa 0000 (c.-0199) 5'UTR

rs1799989

V: 13


Link(39)
Link(44)
Polymorphism c.-259g>c atggt>atcgt 0000 (c.-0259) 5'UTR




Link(41)
Polymorphism c.-301c>t aacct>aatct 0000 (c.-0301) 5'UTR

rs4547091




Link(39)
Polymorphism c.-658del c tgcag ctatc>tg_ag ctatc 0000 (c.-0658) 5'UTR




Link(28)
Polymorphism c.-682ins g tgaac aaatc>tgaag caaatc 0000 (c.-0682) 5'UTR




Link(28)
Polymorphism c.-689ins c? tatcc cacaa>tatcc ccaca a 0000 (c.-0689) 5'UTR




Link(28)
Polymorphism c.-801ins gagagggaga gaggg agagg>gaggg gagag ggaga agagg 0000 (c.-0801) 5'UTR




Link(28)
Polymorphism (GA)n
0000 (c.-0833) 5'UTR




Link(33)
Polymorphism c.-961del g gaggg ggaga>gaggg g_aga 0000 (c.-0961) 5'UTR




Link(28)
OCA Deletion Exon 1 - 5

1-5


Compound:
  • c.731delGT

Patients: Netherlands
Link(51)
OCA1A Deletion Exon 1

1


Compound:
  • c.730delTG

Link(8)
OCA1 Deletion Exon 1 - 5

1-5




Link(54)
OCA1 Met 1 Val ATG>GTG 001 (c.0001) 1

HGMD listed

rs28940881

V: 37
Compound:
  • R402Q
  • R217W
  • T373K
  • c.75insT
  • G47D

complete loss of activity
Link(52)
AROA Met 1 Val ATG>GTG 001 (c.0001) 1

HGMD listed

rs28940881

V: 37
Compound:
  • R402Q
  • M320Q
  • P21S
  • c.1467insT
  • Single

complete loss of activity
Link(9)
Link(25)
Link(16)
Link(31)
Link(8)
Link(48)
Link(1)
OCA1A Met 1 Thr ATG>ACG 001 (c.0002) 1

HGMD listed





(45)
SNP Leu 2 Leu CTC>CTT 002 (c.0006) 1

rs35541275




dbSNP
OCA1B c.25delC TGC CTG>TGC _TG 009 (c.0025) 1

HGMD listed

rs62636513


Compound:
  • single

Link(58)
Link(20)
OCA1A Leu 9 Pro CTG>CCG 009 (c.0026) 1




Link(23)
OCA1A c.48delC TCC GCT>TC_ GCT 018 (c.0048) 1


Compound:
  • R402Q

Link(19)
OCA1A c.53delG GCT GGC>GCT G_C 018 (c.0053) 1

HGMD listed

rs61753176


Compound:
  • single

Patients: 1104
Argentinian
Link(36)
Link(23)
OCA1A His 19 Arg CAT>CGA 019 (c.0056) 1


Compound:
  • V275F
  • R299H

Patients: France
Link(51)
Link(73)
OCA1A His 19 Gln CAT>CAA 019 (c.0057) 1

HGMD listed

rs61753177


Compound:
  • single

Patients: 608
Caucasian
Link(36)
OCA1A Pro 21 Ser CCT>TCT 021 (c.0061) 1

HGMD listed

rs61753178

V: 23
Compound:
  • M1V

Link(40)
Link(39)
Link(56)
Link(55)
Link(16)
Link(20)
Link(23)
Link(70)
OCA1A Cys 24 Arg TGT>CGT 024 (c.0070) 1


Compound:
  • R299H

Patients: Chinese
Link(73)
OCA1 Cys 24 Tyr TGT>TAT 024 (c.0071) 1


Compound
  • single
  • R116X
  • R77Q
  • W400L
  • c.232insGGG
  • C55Y

Patients: Chinese
Link(72)
Link(73)
OCA Val 25 Phe GTC>TTC 025 (c.0073) 1




Link(46)
OCA1A c.75insT GTC TCC>GTT CTC C 025 (c.0075) 1


Compound:
  • M1V
  • IVS2-7t>a-10deltt

Patients: Israelites
Link(23)
Link(46)
Link(52)
OCA1 Thr 29 Pro (incorrect) A>C 029 (c.0096) 1


Position not present in reference sequence given by author.
Link(46)
OCA1A Lys 33 Thr AAG>ACG 033 (c.0098) 1


Compound:
  • c.573delA

Patients: Turkey
Link(51)
OCA1 Cys 36 Tyr TGT>TAT 036 (c.0107) 1

HGMD listed

rs61753179




Link(48)
SNP Pro 38 Thr CCG>ACG 038 (c.0112) 1

rs61759520




dbSNP
SNP Pro 38 Pro CCG>CCA 038 (c.0114) 1

rs1939261




dbSNP
OCA1B Trp 39 Arg CGT>AGT 039 (c.0115) 1


Compound:
  • R422Q

Patients: Chinese
Link(73)
OCA1A Trp 39 ter TGG>TAG 039 (c.0116) 1




Link(23)
OCA1B Trp 39 Cys TGG>TGT 039 (c.0117) 1


Compound:
  • C55Y
  • R299H

Patients: Chinese
Link(73)
OCA1B Gly 41 Arg GGG>AGG 041 (c.0121) 1


Compound:
  • C100F

Link(23)
Link(73)
OCA1A Asp 42 Asn GAC>AAC 042 (c.0124) 1




Link(6)
OCA1 c.124delG AGC GGG GAC>AGC GGG _AC 042 (c.0124) 1




Link(20)
OCA1A Asp 42 Gly GAC>GGC 042 (c.0125) 1

HGMD listed

rs28940878

V: 19


Link(40)
Link(39)
Link(56)
Link(55)
Link(21)
Link(23)
OCA1 Ser 44 Gly AGT>GGT 044 (c.0130) 1




Link(46)
OCA1 Ser 44 Arg AGT>CGT 044 (c.0130) 1




Link(46)
SNP Pro 45 Thr CCC>ACC 045 (c.0133) 1

rs13312739




Link(19)
OCA Gly 47 Val GGC>TGC 047 (c.0139) 1




Link(46)
OCA1A Gly 47 Asp GGC>GAC 047 (c.0140) 1 -HaeIII

HGMD listed

rs61753180

V: 24
Homozygous
Compound:
  • T373K
  • L216M
  • P81L
  • c.649del C
  • R217W
  • IVS2-7t>a-10deltt

Patients: Israelites
Link(35)
Link(3)
Link(55)
Link(37)
Link(10)
Link(23)
Link(52)
Link(46)
Link(20)
Link(53)
OCA1A Ser 50 ter TCA>TGA 050 (c.0149) 1

HGMD listed

rs61753182


Homozygous
Link(10)
Link(74)
OCA1A Arg 52 Ile AGA>ATA 052 (c.0155) 1

HGMD listed

rs61753182


Compound:
  • D383N

Patients: 955
Korean
Link(36)
AROA Cys 55 Tyr TGT>TAT 055 (c.0164) 1

HGMD listed

rs28940879

V: 20
Compound:
  • R402Q

Link(9)
Link(39)
Link(55)
Link(24)
Link(19)
Link(20)
OCA1A Cys 55 Tyr TGT>TAT 055 (c.0165) 1

HGMD listed

rs28940879

V: 20
Disrupts disulfide bond or elminates copper binding
Compound:
  • single
  • R402Q
  • W39C
  • M185V
  • C24Y
  • R116X
  • R278X
  • R212T
  • Single

Link(40)
Link(56)
Link(71)
Link(2)
Link(9)
Link(73)
SNP Gln 56 His CAG>CAT 056 (c.0168) 1

rs11545464




dbSNP
OCA1A Arg 59 Gln CGG>CAG 059 (c.0312) 1 MspI-, BstNI+

HGMD listed

rs61753178

V: 10
Homozygous
Nucleotide and amino acid numbering does not correspond to reference sequence
Link(63)
SNP Leu 60 Leu CTG>TTG 060 (c.0178) 1

rs1939260




dbSNP
OCA1 Gln 68 His CAA>CAT 068 (c.0204) 1




Link(46)
OCA1B c.223delG GTG GAT>GTG _AT 075 (c.0223) 1

HGMD listed

rs61753183


Compound:
  • single

Patients: 1309
Caucasian
Link(36)
OCA1 Asp 76 Glu GAC>GAG 076 (c.0228) 1


Compound:
  • Single

Link(16)
OCA2 Arg 77 Trp CGG>TGG 077 (c.0229) 1

HGMD listed

rs61753184


Compound:
  • c.1164delT
  • R77Q

Patients: 70
Link(48)
Link(73)
OCA1B Arg 77 Trp CGG>TGG 077 (c.0229) 1

HGMD listed

rs61753184


Compound:
  • V275F
reported as R77C (CGG-TGT)
Patients: 70
Caucasian
Link(36)
Link(58)
Link(23)
Link(20)
OCA1B Arg 77 Gly CGG>GGG 077 (c.0229) 1


Compound:
  • N328K

Patients: Chinese
Link(73)
OCA1A/OCA2 Arg 77 Gln CGG>CAG 077 (c.0230) 1 -MspI

HGMD listed

rs61753185

V: 05
Compound:
  • c.926insC
  • c.731delGT
  • c.-959delg +c. -801ins gagagggaga + c--691ins c +-c -682ins g + c.-658del c
  • R299H
  • single

Patients: Japanese
Link(40)
Link(39)
Link(55)
Link(63)
Link(47)
Link(48)
Link(28)
Link(73)
OCA1A/OCA2 Arg 77 Gln CGG>CAG 077 (c.0230) 1 -MspI

HGMD listed

rs61753185

V: 05
Compound:
  • IVS2-7t-a
  • E398G
  • P81L
  • V377A
  • single
  • c.929insC
  • C24Y
  • R77W

Link(48)
Link(3)
Link(31)
Link(71)
Link(46)
Link(23)
Link(64)
Link(72)
(49)
OCA1A/B Glu 78 ter GAG>TAG 078 (c.0232) 1

HGMD listed

rs61753186


Compound:
  • G446S

Link(58)
Link(20)
OCA1A c.232insGGG CGG GAG>CGG GGG GAG 078 (c.0232) 1

rs61753187


Compound
  • single
  • W400L
  • D383N
  • R402G
  • R299H
  • C24Y
  • c.929insC
  • R402X
  • R278X
    Patients: Chinese
  • Link(71)
    Link(72)
    Link(73)
    OCA1A/B Ser 79 Pro TCG>CCG 079 (c.0235) 1




    Link(23)
    OCA1A/B Ser 79 Leu TCG>TTG 079 (c.0236) 1




    Link(46)
    OCA1A Trp 80 Arg TGG>CGG 080 (c.0238) 1

    HGMD listed

    rs61753188


    Compound:
    • G446S
    • R402Q

    Link(58)
    Link(23)
    Link(20)
    OCA1A Trp 80 ter TGG>TGA 080 (c.0240) 1

    HGMD listed

    rs61753189


    Compound:
    • G47D

    Patients: 1117
    Caucasian
    Link(36)
    Link(3)
    OCA1A/B Pro 81 Ser CCT>TCT 081 (c.0241) 1




    Link(23)
    OCA1A Pro 81 Leu CCT>CTT 081 (c.0242) 1

    HGMD listed

    rs28940876

    V: 02
    Homozygous
    Compound:
    • R217G
    • N371T
    • G47D
    • G446S
    • IVS1-1GA>TG
    • R77Q

    Patients: France
    Link(12)
    Link(39)
    Link(48)
    Link(56)
    Link(51)
    Link(20)
    Link(23)
    (49)
    OCA1B Phe 84 Val TTT>GTT 084 (c.0255) 1




    Link(20)
    OCA1A Tyr 85 ter TAT>TAG 085 (c.0255) 1


    Compound:
    • R402X

    Link(74)
    (49)
    OCA1 Cys 89 Arg TGC>CGC 089 (c.0265) 1 -BsrI

    HGMD listed

    rs28940877

    V: 11
    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
    Link(60)
    Link(55)
    Link(39)
    Link(40)
    Link(56)
    SNP Gln 90 Arg CAG>CGG 090 (c.0270) 1

    rs13312740




    dbSNP
    OCA1 Cys 91 Ser TGC>TCC 091 (c.0272) 1


    Compound:
    • G419R

    Patients: Indian
    Link(31)
    Link(6)
    OCA1A c.286insA TTC ATG>TTC AAT G 096 (c.0286) 1

    HGMD listed

    rs61753190

    V: 18


    Link(40)
    Link(39)
    Link(56)
    Link(55)
    Link(42)
    Link(23)
    Link(20)
    OCA1A Gly 97 Arg GGA>AGA 097 (c.0289) 1

    HGMD listed

    rs61753252


    Compound:
    • C:731delGT (affects EGF-like site)
    • T373K

    Patients: 602
    Caucasian
    Link(36)
    Link(48)
    OCA1A Gly 97 Val GGA>GTA 097 (c.0290) 1


    Homozygous
    Compound:
    • IVS2-10deltt-7t>a

    Patients: Japanese
    Link(15)
    OCA Cys 100 Phe TGT>TTT 100 (c.0298) 1


    Compound:
    • G41R

    Patients: Chinese
    Link(73)
    OCA1A Gly 106 Arg GGC>AGC 106 (c.0316) 1




    Link(23)
    OCA Gly 109 Arg GGA>AGA 109 (c.0325) 1

    rs61753253


    Possibly affects protein interactions and glycosylation
    Compound:
    • T373K

    Link(3)
    OCA c.338delCA TGC ACA GAG>TGC A__ GAG 113 (c.0338) 1

    HGMD listed

    rs61753254


    Compound:
    • T373K

    Link(3)
    Link(29)
    Link(20)
    OCA1A c.344delGA ACA GAG AGA CGA>ACA GAG A__ CGA 115 (c.0344) 1

    HGMD listed

    rs617523255


    Homozygous
    Compound:
    • R403S

    Link(40)
    Link(56)
    Link(48)
    Link(36)
    Link(23)
    Link(20)
    OCA1A Arg 116 ter CGA>TGA 116 (c.0346) 1

    HGMD listed

    rs61753256


    Homozygous
    Compound:
    • single
    • C24Y
    • C55Y
    • c.929insC
    • W475X
    • R278X

    Patients: 686
    Caucasian
    Chinese
    Link(36)
    Link(46)
    Link(23)
    Link(72)
    Link(73)
    OCA1B Ile 123 Thr TTT>GTT 123 (c.0368) 1




    Link(20)
    OCA1A Tyr 181 Cys TAT>TGT 123 (c.0542) 1




    Link(20)
    SNP Asp 125 Tyr GAT>TAT 125 (c.0373) 1

    rs13312741




    dbSNP
    SNP Asp 125 Gly GAT>AAT 125 (c.0374) 2


    Compound:
    • single

    (49)
    SNP Ala 128 Ala GCC>GCA 128 (c.0384) 1

    rs56414416




    dbSNP
    OCA1 Lys 131 Glu AAG>GAG 131 (c.0391) 1


    Compound:
    • R278X

    Patients: Indian
    Link(31)
    SNP Lys 131 Lys A>G 131 (c.0393) 1

    rs61759521




    dbSNP
    SNP Phe 134 Cys TTT>TTG 134 (c.0401) 1

    rs33955261




    dbSNP
    OCA1B Lys 142 Asn AAG>AAT 142 (c.0426) 1

    rs11545463


    Compound:
    • R299H

    Patients: Chinese
    Link(72)
    OCA1B Lys 142 Met AAG>ATG 142 (c.425) 1


    Compound:
    • R299H

    Patients: Chinese
    Link(73)
    OCA1A Tyr 149 Cys TAT>TGT 149 (c.0426) 1




    Link(20)
    OCA1 Pro 152 Ser CCC>TCC 152 (c.0456) 1

    HGMD listed

    rs61753257


    Compound:
    • A355A

    Link(10)
    Link(56)
    OCA1 c.459insT ATA GGG>ATT AGG G 153 (c.0459) 1

    HGMD listed

    rs61753258


    Compound:
    • IVS2-7t-a
    • T373K

    Link(48)
    OCA1 Thr 155 Ser ACC>TCC 155 (c.0463) 1




    Link(46)
    OCA1A Ser 163 ter TCA>TGA 163 (c.0488) 1


    Compound:
    • T373K

    Patients: France
    Link(51)
    OCA1A c.505delGAC AAC GAC ATC>AAC ___ ATC 169 (c.050) 1


    Compound:
    • c.1467insT

    Patients: England
    Link(51)
    OCA1 Phe 176 Ile TTT>ATT 176 (c.0526) 1

    HGMD listed

    rs61753259




    Link(35)
    Link(39)
    Link(40)
    Link(56)
    Link(38)
    OCA1 Val 177 Phe GTC>TTC 177 (c.0529) 1




    Link(46)
    OCA1 Trp 178 ter TGG>TAG 178 (c.0533) 1 +XbaI

    HGMD listed

    rs61754360

    V: 14


    Link(14)
    Link(39)
    Link(40)
    Link(56)
    Link(55)
    OCA1 Met 179 Leu ATG>CTG 179 (c.0535) 1




    Link(46)
    OCA1 His 180 Asn CAT>AAT 180 (c.0538) 1




    Link(46)
    OCA2 Met 185 Val ATG>GTG 185 (c.0553) 1


    Compound:
    • C55Y

    Patients: Chinese
    Link(73)
    OCA1A c.572delG CTT GGG GGA>CTT GGG G_A 191 (c.0572) 1

    HGMD listed

    rs61754361

    V: 15


    Link(40)
    Link(39)
    Link(56)
    Link(55)
    Link(42)
    Link(23)
    Link(20)
    OCA1A c.573delA GGG GGA TCT>GGG GG_ TCT 191 (c.0573) 1


    Compound:
    • K33T

    Patients: Turkey
    Link(51)
    Link(23)
    Polymorphism Ser 192 Tyr TCT>TAT 192 (c.0575) 1 -DpnI, +MspI

    rs1042602

    V: 08
    Compound:
    • R402Q - 27% activity at 37C
    • c.929insC

    Link(40)
    Link(39)
    Link(56)
    Link(55)
    Link(48)
    Link(12)
    (49)
    Link(73)
    OCA1A c.589delGA TGG AGA GAC ATT>TGG AGA __ ATT 197 (c.0589) 1




    Link(23)
    OCA1 Asp 199 Asn GAT>AAT 199 (c.0595) 1




    Link(46)
    OCA1 c.601delG TTT GCC>TTT _C 201 (c.0601) 1




    Link(46)
    OCA1 Ala 201 Ser GCC>TCC 201 (c.0601) 1




    Link(46)
    OCA Pro 205 Thr CCA>ACA 205 (c.0613) 1

    rs61754362


    Impairs copper-binding
    Link(3)
    Link(23)
    Link(20)
    OCA1 Ala 206 Thr GCT>ACT 206 (c.0616) 1 -AluI

    HGMD listed

    rs78140880

    V: 21
    Compound:
    • single

    Link(21)
    Link(39)
    Link(40)
    Link(55)
    Link(16)
    OCA1 Pro 209 Leu CCT>CTT 209 (c.0626) 1




    Link(20)
    OCA1A/B Pro 209 Arg CCT>CGT 209 (c.0626) 1




    Link(23)
    OCA1A His 211 Arg CAT>CTT 211 (c.0632) 1


    Compound:
    • Y235H

    Patients: Chinese
    Link(73)
    OCA1A Arg 212 Thr AGA>ACA 212 (c.0635) 1


    Compound:
    • C55Y

    Patients: Chinese
    Link(73)
    OCA1A Arg 212 Lys AGA>AAA 212 (c.0635) 1




    Link(23)
    OCA1 Leu 216 Met TTG>ATG 216 (c.0646) 1

    HGMD listed

    rs61754363

    V: 36
    Compound:
    • G47D

    Link(35)
    Link(39)
    Link(40)
    Link(56)
    OCA2, OCA1B Arg 217 Trp CGG>TGG 217 (c.0649) 1 -AciI

    HGMD listed

    rs63159160

    V: 25
    Compound:
    • c.649delC
    • G47D
    • M1V

    Patients: Israelites
    Link(70)
    Link(40)
    Link(39)
    Link(56)
    Link(48)
    Link(20)
    Link(48)
    Link(39)
    Link(55)
    Link(52)
    OCA c.649delC TTG CGG>TTG _GG 217 (c.0649) 1

    HGMD listed

    rs61754364


    Compound:
    • R217W
    • IVS2-7t>a-10deltt

    Patients: Israelites
    Link(56)
    Link(48)
    Link(10)
    Link(20)
    Link(23)
    Link(52)
    OCA1 Arg 217 Ser CGG>TGG 217 (c.0649) 1




    Link(46)
    OCA1A Arg 217 Gly CGG>GGG 217 (c.0649) 1 -AciI

    HGMD listed



    Compound:
    • P81L

    Link(58)
    Link(57)
    Link(20)
    OCA1 Arg 217 Gln CGG>CAG 217 (c.0650) 1 -AciI

    HGMD listed



    Compound:
    • E294K

    Link(39)
    Link(40)
    Link(56)
    Link(48)
    Link(38)
    Link(20)
    Link(19)
    Link(23)
    OCA1 Glu 219 ter GAA>TAA 219 (c.0655) 1


    Compound:
    • R402Q

    Patients: France
    Link(51)
    OCA1A Glu 219 Lys GAA>AAA 219 (c.0655) 1




    Link(6)
    OCA1A Asp 249 Gly GAT>GGT 219 (c.0746) 1


    Compound:
    • G253E

    Patients: Chinese
    Link(73)
    OCA1A Glu 221 Lys GAA>AAA 221 (c.0661) 1




    Link(23)
    OCA1 Ile 222 Thr ATC>ACC 222 (c.0665) 1

    rs34878847


    Compound:
    • T373K
    • G446S
    • D383N

    Link(16)
    OCA c.678delAGG ACA GGA GAT>AC_ __A GAT 226 (c.0678) 1

    rs61754366


    Compound:
    • T373K
    • Q359X

    Link(3)
    Link(16)
    OCA1A Tyr 235 His TAT>CAT 235 (c.0703) 1


    Compound:
    • H211R

    Patients: Chinese
    Link(73)
    OCA1A Trp 236 Arg TGG>CGG 236 (c.0706) 1


    Compound:
    • R278X

    Patients: Chinese
    Link(73)
    OCA1 Trp 236 Ser TGG>TCG 236 (c.0707) 1

    HGMD listed



    Compound:
    • F439V

    Link(48)
    OCA1 Trp 236 Leu TGG>TTG 236 (c.0707) 1




    Link(46)
    OCA1 Trp 236 ter TGG>TAG 236 (c.0707) 1

    HGMD listed

    rs61754367

    V: 35
    Homozygous
    Link(35)
    Link(55)
    Link(39)
    Link(40)
    Link(56)
    OCA1 Arg 239 Trp GGG>TGG 239 (c.0715) 1

    rs36006590


    Homozygous
    Link(34)
    Link(23)
    Link(64)
    (49)
    SNP Arg 239 Gln CGG>CAG 239 (c.0716) 1




    dbSNP
    OCA1 Asp 240 Val GAT>GTT 240 (c.0719) 1




    Link(46)
    OCA1 Lys 243 Thr AAG>ACG 243 (c.0728) 1




    Link(46)
    OCA1A c.732delTG AAG TGT GAC>AAG TG_ _AC 245 (c.0732) 1

    HGMD listed

    rs61754368

    V: 17
    Compound:
    • IVS2-7t-a
    • R77Q
    • N371Y (OCA2)
    • Deletion exon 1
    • D383N
    • M370I
    • E328K
    • G346X

    Patients: Netherlands

    Link(39)
    Link(55)
    Link(48)
    Link(8)
    Link(51)
    Link(20)
    (49)
    OCA1A Gly 253 Arg GGA>AGA 253 (c.0757) 1 -MnlI

    HGMD listed

    rs61754369


    Homozygous
    Patients: Israelites
    Link(58)
    Link(52)
    OCA1A Gly 253 Glu GGA>GAA 253 (c.0758) 1


    Compound:
    • D249G

    Link(23)
    Link(73)
    OCA1A Gln 255 ter CAG>TAG 255 (c.0762) 1




    Link(16)
    OCA His 256 Tyr CAC>TAC 256 (c.0766) 1

    rs61754370




    Link(3)
    Link(46)
    Link(72)
    SNP Pro 260 Leu CCT>CTT 260 (c.0779) 1

    rs11826502




    dbSNP
    SNP Leu 263 Ile CTC>ATC 263 (c.0787) 1

    rs61759522




    dbSNP
    SNP Ala 266 Thr GCA>ACA 266 (c.0796) 1

    rs34297847




    dbSNP
    OCA Asp 271 Asn G>A 271 (c.0813) 1


    Position not present in reference sequence given by author.
    Link(46)
    OCA1A Trp 272 Arg tcg>cgg 272 (c.0814) 1




    Link(74)
    OCA1 Trp 272 Cys TGG>TGC 272 (c.0816) 1

    HGMD listed



    Compound:
    • R422Q

    Link(48)
    Link(18)
    OA Trp 272 Cys TGG>TGC 272 (c.0816) 1

    HGMD listed



    Compound:
    • E328K

    (49)
    OCA1A IVS1-n - IVS2+m del
    274 (c.0820) 2


    Compound:
    • R402Q

    Patients: France
    Link(51)
    OCA1 IVS1-3c>g tacag>tagag 274 (c.0820) 2


    Abberant splicing
    Compound:
    • R278X
    • Y235H

    Patients: Chinese
    Link(71)
    Link(23)
    Link(26)
    Link(72)
    Link(73)
    OCA1 IVS1-2del a acag A 274 (c.0820) IVS 1




    Link(46)
    OCA1A IVS1-1gA>tG cag AT>cat GT 274 (c.0820) IVS1


    Compound:
    • P81L

    Patients: France
    Link(51)
    OCA1 Val 275 Phe GTC>TTC 275 (c.0823) 2

    HGMD listed


    V: 07


    Patients: France
    Link(11)
    Link(39)
    Link(55)
    Link(51)
    OCA1B Val 275 Phe GTC>TTC 275 (c.0823) 2

    HGMD listed



    Compound:
    • R77W
    • IVS2-1g-a

    Link(58)
    Link(40)
    Link(3)
    Link(23)
    Link(20)
    OCA Cys 276 Tyr TGT>TAT 276 (c.0827) 2


    Compound:
    • P406L

    Link(16)
    OCA1 Arg 278 ter CGA>TGA 278 (c.0832) 2

    HGMD listed



    Homozygous
    Compound:
    • C55Y
    • R116X
    • K131E
    • G295R
    • G346V
    • c.929insC
    • c.232insGGG
    • H404P
    • W400L
    • R299H
    • R299S
    • IVS2-7t>a-10deltt
    • IVS1-3c>g
    • R299S

    Patients: Indian
    Link(68)
    Link(10)
    Link(55)
    Link(31)
    Link(73)
    Link(27)
    Link(64)
    Link(23)
    Link(15)
    Link(4)
    Link(6)
    Link(72)
    SNP Leu 279 Leu TTG>CTG 279 (c.0835) 2

    rs4987234




    dbSNP
    OCA1 c.841delG GAG GAG>GAG _AG 281 (c.0841) 2

    HGMD listed



    Homozygous
    Link(48)
    OCA1 c.842delA GAG GAG>GAG G_G 281 (c.0842) 2




    Link(46)
    SNP Asn 283 Ile AAC>ATG 283 (c.0848) 2

    rs11824499




    dbSNP
    OCA1A Cys 289 Gly TGC>GGC 287 (c.0875) 2




    Patients: Chinese
    Link(71)
    OCA1A Leu 288 Ser TTA>CTA 288 (c.0872) 2




    Link(41)
    Link(40)
    OCA1A c.872delTT CAG TCT TTA>CAG TCT __A 288 (c.0872) 2


    Reported as 861-862delTT
    Link(71)
    OCA1A c.873delT TCT TTA>TCT T_A 288 (c.0873) 2

    HGMD listed





    Link(55)
    Link(47)
    Link(55)
    OCA1A Cys 289 Tyr TGC>TAC 289 (c.0846) 2




    Link(23)
    OCA1A Cys 289 Arg TGC>CGC 289 (c.0875) 2

    HGMD listed



    Compound:
    • M1T
    • G446S
    Disrupts disulfide bond, affecting protein folding and/or stability
    Patients: 207
    Egyptian/Caucasian
    Chinese
    Link(36)
    Link(48)
    Link(71)
    Link(46)
    SNP Thr 292 Met ACG>ATG 292 (c.0875) 2

    rs61754372




    dbSNP
    OCA1 Glu 294 Gly GAG>GGG 294 (c.0880) 2

    HGMD listed



    Compound:
    • R403S

    Link(48)
    OCA1 Glu 294 Lys GAG>AAG 294 (c.0880) 2

    HGMD listed



    Compound:
    • IVS2-7t>a-10deltt
    • R217Q

    Patients: Israelites
    Link(10)
    Link(48)
    Link(3)
    Link(23)
    Link(55)
    Link(20)
    Link(52)
    OCA1 Gly 295 Arg GGA>AGA 295 (c.0883) 2


    Compound:
    • R278X

    Patients: Indian
    Link(31)
    SNP Leu 297 Leu A>G 297 (c.0891) 2

    rs61754373




    dbSNP
    OCA1A Arg 299 Cys CGT>TGT 299 (c.0895) 2


    Compound:
    • P406L
    • c.1037-7t>a
    • c.929insC
    • G506X

    Link(16)
    Link(73)
    OCA1 Arg 299 Ser CGT>AGT 299 (c.0895) 2

    HGMD listed

    rs61754374


    Homozygous
    Compound:
    • c.929insC
    • R278X

    Disrupts copper binding
    Patients: Chinese
    Link(58)
    Link(71)
    Link(39)
    Link(55)
    Link(23)
    Link(26)
    Link(20)
    Link(72)
    Link(73)
    OCA1 Arg 299 His CGT>CAT 299 (c.0896) 2

    HGMD listed

    rs61754375

    V: 26
    Homozygous
    Compound:
    • single
    • H19R
    • C24R
    • W39C
    • c.232insGGG
    • IVS2-7t>a-10deltt
    • R278X
    • W400L
    • P406L
    • c.929insC
    • K142N

    Disrupts copper binding
    Patients: Chinese
    Caucasian
    Link(47)
    Link(20)
    Link(72)
    Link(74)
    Link(23)
    Link(73)
    Link(70)
    Link(40)
    Link(10)
    Link(56)
    Link(47)
    Link(71)
    OCA1A c.911delATGA AAC CAT GAC>AAC C__ __C 304 (c.0911) 2




    Link(23)
    OA Asp 305 Glu GAC>GAA 305 (c.0915) 2


    Compound:
    • single

    Link(16)
    Link(23)
    SNP Arg 308 Thr AGA>ACA 308 (c.0923) 2

    rs1042608




    dbSNP
    OCA1A c.929insC AGA ACC CCA AGG>AGA ACC CCC AAG G 310 (c.0929) 2

    HGMD listed

    rs61754376

    V: 27
    Homozygous
    Compound:
    • Single
    • IVS2-10deltt-7t-a
    • R77Q
    • R299H
    • R77Q
    • R116X
    • G253E
    • N382K
    • H390D
    • R278X
    • R299H
    • R299C
    • W400L
    • c.1348insGG
    • R422Q
    • S192Y
    • IVS2-10deltt-7t>a

    Patients: Korean
    Link(40)
    Link(39)
    Link(55)
    Link(71)
    Link(47)
    Link(65)
    Link(70)
    Link(64)
    Link(15)
    Link(72)
    Link(73)
    OCA1A Leu 312 Val CTC>GTC 312 (c.0934) 2

    HGMD listed

    rs61754377


    Compound:
    • P313R

    Patients: 523
    Link(36)
    OCA1A c.937del8bp CTC CCC TCT TCA GCT>CTC ___ ___ __A GCT 313 (c.0937) 2




    Link(62)
    OCA1A Pro 313 Arg CCC>CGC 313 (c.0938) 2

    HGMD listed

    rs61754378


    Compound:
    • L312V

    Patients: 574
    Link(36)
    OCA1 Val 318 Glu GTA>GAA 318 (c.0953) 2




    Link(46)
    SNP Cys 321 Phe TGC>TTC 321 (c.0962) 2




    (49)
    OCA1B Thr 325 Ala ACC>GCC 325 (c.0973) 2

    HGMD listed

    rs61754379


    Compound:
    • single

    Link(58)
    Link(20)
    OCA1A Gln 326 ter CAA>TAA 326 (c.0976) 2




    Link(6)
    OCA1A Tyr 327 Cys TAT>TGT 327 (c.0980) 2




    Link(23)
    OA Glu 328 Lys GAA>AAA 328 (c.0982) 2


    Compound:
    • W272C

    (49)
    OCA Glu 328 Lys GAA>AAA 328 (c.0982) 2


    Compound:
    • E328K
    • D383N
    • S329P
    • c.732delTG
    • P406L

    (49)
    OCA1 Glu 328 Gln GAA>CAA 328 (c.0982) 2 -HinfI

    HGMD listed

    rs61754380




    Link(68)
    Link(56)
    Link(55)
    OCA1A Ser 329 Pro TCT>CCT 329 (c.0985) 2


    Compound:
    • M370I

    Link(74)
    Link(46)
    (49)
    OCA1A Met 332 Thr ATG>GTG 332 (c.0995) 2




    Link(23)
    Link(46)
    OCA Met 332 Ile ATG>ATA 332 (c.0996) 2


    Homozygous
    Link(16)
    OCA1A Ser 339 Gly AGC>GGC 339 (c.1015) 2 -AluI

    HGMD listed



    Compound:
    • single

    Link(58)
    Link(3)
    OCA1B Phe 340 Leu TTT>CTT 340 (c.1018) 2

    HGMD listed



    Compound:
    • single

    Patients: 608
    Caucasian
    Link(36)
    Polymorphism Asn 342 Asn AAT>AAC 342 (c.1018) 2




    Link(74)
    OCA1 Glu 345 Gly GAA>GG 345 (c.1034) 1




    Link(46)
    OCA1A Gly 346 ter GGA>TGA 346 (c.1036) 2


    Homozygous
    Compound:
    • E328K
    • c.732delTG

    Splice Site Mutation
    Link(41)
    Link(23)
    (49)
    OCA1a IVS2>+60del 15bp
    346 (c.1036) IVS2




    Link(74)
    OCA1A/B IVS2+2t>g G gtaa>G ggaa 346 (c.1036) IVS2




    Link(23)
    OCA1A Gly 346 Glu GGA>GGG 346 (c.1037) 3



    Splice Site Mutation
    Link(41)
    Link(74)
    OCA1 Gly 346 Val CGA>CTA 346 (c.1037) 3


    Compound:
    • R278X

    Patients: Indian
    Link(31)
    OCA1B IVS2-10deltt-7t>a tttttaatgaa>ttt__aaagaa 346 (c.1037) IVS2


    Compound:
    • c.928insC

    Link(47)
    Link(15)
    Link(30)
    OCA1B IVS2-7t>a ttttgt>tttagt 346 (c.1037) IVS2

    HGMD listed



    Homozygous
    Compound:
    • single
    • T373K
    • G47D
    • E294K
    • T266P
    • c.74insT
    • c.649delC
    • R278X
    • R299H
    • S380P
    • H390D
    • c.731delGT
    • P299C

    Patients: Korean, Israelites
    Link(64)
    Link(10)
    Link(20)
    Link(19)
    Link(52)
    Link(73)
    Link(48)
    Link(55)
    Link(54)
    Link(16)
    Link(23)
    OCA1B IVS2-1g>a cagAT>caaAT 346 (c.1037) IVS2

    HGMD listed



    Compound:
    • V275F

    Link(58)
    Link(19)
    OCA1B Ala 355 Pro GCG>CCG 355 (c.1063) 3 -AciI

    HGMD listed

    rs1800421


    Compound:
    • D448N
    • P406L
    • R403S

    Link(58)
    Link(56)
    Link(55)
    Link(48)
    Link(3)
    Link(20)
    OCA1A Ala 355 Glu GCG>GAG 355 (c.1064) 3




    Link(41)
    Polymorphism Ala 355 Ala GCG>GCA 355 (c.1065) 3




    Link(41)
    Link(10)
    OCA1A Gln 359 ter CAA>TAA 359 (c.1075) 3

    HGMD listed



    Compound:
    • T373K

    Link(58)
    Link(46)
    Link(20)
    OCA1 Gln 359 Leu CAA>CTA 359 (c.1076) 3


    Compound:
    • c.680delGAG
    • P406L

    Link(16)
    Link(74)
    OCA1 Ser 360 Gly AGC>GGC 360 (c.1078) 3




    Link(74)
    OCA1A Ser 361 Arg AGC>CGC 361 (c.1081) 3




    Link(61)
    OCA1 His 363 Tyr CAC>TAC 363 (c.1087) 3


    Reported as H363T
    Link(46)
    OCA1 His 367 Tyr CAC>TAC 367 (c.1100) 3

    HGMD listed





    Link(1)
    OCA1A His 367 Arg CAC>CGC 367 (c.1100) 3

    rs61754384




    Link(40)
    OCA1A Tyr 369 Cys TAA>TGT 369 (c.1106) 3




    Link(23)
    OCA1 Met 370 Thr ATG>ACG 370 (c.1109) 3

    HGMD listed

    rs61754385


    No Activity
    Compound:
    • M1V
    • R402Q

    Link(1)
    OCA Met 370 Ile ATG>ATA 370 (c.1110) 2


    Compound:
    • S329P
    • D383N
    • M370I
    • c.732delTG
    • E328K
    • P406L

    (49)
    OCA1A Asn 371 Tyr AAT>TAT 371 (c.1111) 3

    HGMD listed

    rs61754386


    Compound:
    • c.731delGT

    Link(48)
    Link(39)
    Link(61)
    OCA1A Asn 371 Thr AAT>ACT 371 (c.1112) 3

    HGMD listed

    rs61754387

    V: 28
    Compound:
    • P81L

    Link(35)
    Link(40)
    Link(56)
    Link(55)
    Link(37)
    Link(23)
    OCA1A Gly 372 Arg GGA>AGA 372 (c.1114) 3




    Link(6)
    OCA1A Thr 373 Lys ACA>AAA 373 (c.1118) 3

    HGMD listed

    rs6175388

    V: 03
    Homozygous
    Compound:
    • M1V
    • Q359X
    • S395N
    • c.49insT
    • A355P
    • P406L
    • c.336delCA
    • c.678delAGG
    • G109R
    • R402Q
    • S163X
    • IVS2-7t>a-10deltt
    • M1V

    Patients: Israelites
    destroys glycosylation site at N371
    retained in ER
    Link(23)
    Link(59)
    Link(46)
    Link(19)
    Link(20)
    Link(52)
    Link(58)
    Link(40)
    Link(48)
    Link(10)
    Link(56)
    Link(3)
    Link(17)
    Link(1)
    OA Thr 373 Lys ACA>AAA 373 (c.1118) 3

    rs6175388

    V: 03
    Homozygous
    Compound:
    • R217Q
    • P406L
    • single

    Link(16)
    (49)
    OCA1A Gln 376 ter CAG>TAG 376 (c.1126) 3 -MvaI

    HGMD listed

    rs61754389




    Link(56)
    Link(55)
    Link(68)
    OCA Val 377 Ala GTA>GCA 377 (c.1130) 3


    Compound:
    • R77Q

    (49)
    OCA1A Gln 378 ter CAG>TAG 378 (c.1132) 3 -Csp6I

    HGMD listed

    rs61754390




    Link(40)
    Link(39)
    Link(55)
    Link(38)
    Link(20)
    OCA1A Gln 378 Lys CAG>AAG 378 (c.1132) 3




    Link(46)
    Polymorphism Gly 379 Gly GGA>GGT 379 (c.1137) 3




    Link(46)
    OCA Met 370 Ile ATG>ATA 380 (c.1110) 3


    Compound:
    • E328K
    • D383N
    • S329P
    • c.732delTG
    • P406L

    (49)
    OCA1B Ser 380 Pro TCT>CCT 380 (c.1138) 3 -DpnI

    HGMD listed

    rs61754391


    Compound:
    • IVS2-7t>a

    Link(58)
    Link(55)
    Link(20)
    OCA Asn 382 Lys AAC>AAA 382 (c.1146) 3

    HGMD listed


    V: 16
    Compound:
    • c.929insC
    • R77G

    OCA1A Asp 383 Asn GAT>AAT 383 (c.1147) 3 -DpnI

    HGMD listed


    V: 04
    Homozygous
    Compound:
    • L452V
    • R217Q
    • single
    • M370I
    • c.732delTG
    • E328K
    • c.232insGGG

    Patients: Caucasian
    Link(40)
    Link(56)
    Link(39)
    Link(55)
    Link(42)
    Link(73)
    Link(3)
    Link(55)
    Link(47)
    Link(39)
    Link(16)
    Link(59)
    Link(23)
    Link(64)
    Link(46)
    Link(19)
    Link(20)
    (49)
    Link(73)
    OCA1A c.1161delT TTC CTT CTT>TTC CT_ CTT 388 (c.1161) 3




    Link(40)
    OCA2 c.1164delT CTT CAC>CT_ CAC 388 (c.1164) 3

    HGMD listed


    V: 29


    Link(70)
    Link(48)
    Link(55)
    Link(46)
    Link(20)
    SNP His 389 His CAC>CAT 389 (c.1167) 3

    rs13312743




    dbSNP
    OCA1 c.1167insT CTT CAC CAT>CTT CAT CCA T 390 (c.1167) 3




    Link(46)
    OCA1B His 390 Asp CAT>GAT 390 (c.1168) 3 -NlaIII

    HGMD listed



    Compound:
    • IVS2-7t-a
    • c.929insC

    Link(58)
    Link(56)
    Link(55)
    Link(20)
    Link(73)
    OCA1A Ala 391 Glu GCA>GGA 391 (c.1172) 3




    Link(23)
    OCA1A c.1176delT GCA TTT GTT>GCA TT_ GTT 392 (c.1176) 3




    Link(23)
    OCA1A Val 393 Phe GTT>TTT 393 (c.1177) 3




    Link(41)
    Link(46)
    OCA1 c.1180delG GTT GAC>GTT _AC 394 (c.1180) 3




    Link(46)
    OCA1A Ser 395 Arg AG gttgg>CG gttgg 395 (c.1183) 4




    Link(20)
    OCA1A Ser 395 Asn AG gttgg>AA gttgg 395 (c.1184) 4

    HGMD listed



    Compound:
    • T373K

    Link(58)
    Link(20)
    OCA1 IVS3+3t>g gttgg>gtggg 395 (c.1184) IVS 3




    Link(46)
    OCA1 del Exon 4-5
    395 (c.1185) 4




    Link(6)
    OCA1B IVS3-1g>t cag TA>cat TA 395 (c.1185) IVS3


    Compound:
    • homo

    Patients: Morocco
    Link(51)
    OCA1 Glu 398 Gly GAG>GGG 398 (c.1193) 4


    Compound:
    • R77Q

    Patients: Indian
    Link(31)
    OCA1A Glu 398 Ala GAG>GCG 398 (c.1193) 4




    Link(20)
    OCA1 Glu 398 Val GAG>GTG 398 (c.1194) 4




    Link(46)
    OCA1 Trp 400 Leu TGG>TTG 400 (c.1199) 4


    Disrupts copper binding
    Compound:
  • c.1348insGG
  • c.232insGGG
  • R299H
  • c.929insC
  • C24Y
  • R278X
  • c.1314delCTTT
    Patients: Chinese
  • Link(71)
    Link(26)
    Link(72)
    Link(73)
    OCA1B / OA Trp 400 Cys TGG>TGT 400 (c.1200) 4


    Compound:
    • P406L

    Patients: France
    Link(51)
    OCA1A Arg 402 Gly CGA>GGA 402 (c.1204) 4


    Compound:
    • c.232GGG

    Link(41)
    Link(73)
    OCA1A/B Arg 402 ter CGA>TGA 402 (c.1204) 4

    HGMD listed


    Homozygous
    Compound:
    • Y85X
    • c.232insGGG
    Link(46)
    Link(74)
    Link(19)
    Link(20)
    (49)
    Link(73)
    Link(10)
    Link(56)
    Link(48)
    Link(55)
    Link(23)
    Link(52)
    OCA1 Arg 402 Leu CGA>CTA 402 (c.1205) 4




    Link(46)
    OA3, OCA1B disproven disproven Arg 402 Gln CGA>CAA 402 (c.1205) 4

    HGMD listed

    rs1126809

    V: 09
    Temperature sensitive variant with permissive T at 32C and non-permissive T at 37C (27% activity of WT)
    Compound:
    • C55Y
    • M1V both on S195Y background
    • M370T
    • G219X

    Patients: France
    Link(51)
    Link(9)
    Link(1)
    Link(39)
    Link(55)
    Link(43)
    (49)
    Link(52)
    Link(20)
    Link(32)
    Link(69)
    Link(66)
    Polymorphism Arg 402 Gln CGA>CAA 402 (c.1205) 4

    HGMD listed

    rs1126809

    V: 09
    Temperature sensitive variant with permissive temperature at 32C and non-permissive at 37C
    At non permissive temperature retained in the ER bound to calnexin
    Compound:
    • No

    Link(40)
    Link(56)
    Link(55)
    Link(69)
    Polymorphism Arg 402 Arg CGA>CGC 402 (c.1206) 4




    Link(46)
    OCA1A c.1207delA CGA AGG>CGA _GG 402 (c.1207) 4




    Link(74)
    OCA1B/A Arg 403 Ser AGG>AGT 403 (c.1209) 4

    HGMD listed


    V: 30
    Compound:
    • A355P
    • R403S
    • E294G
    • c.344delGA

    Link(46)
    Link(46)
    Link(40)
    Link(39)
    Link(56)
    Link(55)
    Link(48)
    Link(46)
    Link(20)
    Link(70)
    OCA1 His 404 Asn CAC>AAC 404 (c.1210) 4




    Link(46)
    OCA1A His 404 Pro CAC>CCC 404 (c.1211) 4

    HGMD listed



    Compound:
    • Q452X
    • R278X

    Patients: 853
    Pakistani
    Link(36)
    Link(73)
    OCA1 Arg 405 Leu CGT>GGT 405 (c.1214) 4




    Link(46)
    OCA1B Pro 406 Leu CCT>CTT 406 (c.1217) 4

    HGMD listed


    V: 06
    Compound:
    • N400G
    • C276Y
    • R299C
    • T373K
    • M370I
    • R299H

    Patients: France
    Link(16)
    Link(14)
    Link(66)
    Link(40)
    Link(39)
    Link(56)
    Link(55)
    Link(48)
    Link(51)
    (49)
    Link(73)
    OA Pro 406 Leu CCT>CTT 406 (c.1217) 4

    V: 06
    Compound:
    • Q359X
    • T373K

    Patients: France
    Link(16)
    (49)
    OCA1B Pro 406 Leu CCT>CTT 406 (c.1217) 4




    Link(14)
    Link(66)
    Link(23)
    Link(5)
    Link(46)
    Link(20)
    OCA1A Glu 409 Asp GAA>GAC 409 (c.1227) 4




    Link(46)
    OCA1A Pro 412 Ala CCA>GCA 412 (c.1234) 4




    Link(23)
    OCA1A Glu 413 ter GAA>TAA 413 (c.1237) 4




    Link(46)
    OCA1 Ala 416 Ser GCA>TCA 416 (c.1246) 4




    Link(46)
    OCA1 Pro 417 His CCC>CAC 417 (c.1250) 4




    Link(46)
    OCA1A Gln 408 His CAA>CAC 418 (c.1224) 4




    Link(46)
    OCA1A Gly 419 Arg GGA>AGA 419 (c.1255) 4

    HGMD listed


    V: 22
    Homozygous
    Compound:
    • C91S
    • IVS2-7t>a-10deltt

    Patients: German
    Indian
    Link(40)
    Link(39)
    Link(56)
    Link(55)
    Link(48)
    Link(31)
    Link(46)
    Link(21)
    Link(68)
    Link(23)
    Link(6)
    Link(20)
    Link(73)
    OCA1TS Arg 422 Trp CGG>TGG 422 (c.1264) 4




    Link(23)
    (49)
    OCA1TS Arg 422 Gln CGG>CAG 422 (c.1265) 4

    HGMD listed


    V: 12
    Compound:
    • W272C
    • single
    • c.929insC
    • W39R

    Link(67)
    Link(13)
    Link(46)
    Link(20)
    Link(67)
    Link(13)
    Link(73)
    Link(40)
    Link(39)
    Link(56)
    Link(55)
    Link(48)
    Link(2)
    Link(16)
    OCA1 Ser 424 Phe TCC>TTC 424 (c.1271) 4




    Link(46)
    OCA1 Met 426 Lys ATG>AAG 426 (c.1277) 4




    Link(46)
    OCA1A Val 427 Gly GTT>GGT 427 (c.1280) 4




    Link(46)
    OCA1A Pro 431 Thr CCA>ACA 431 (c.1291) 4




    Link(55)
    Link(23)
    OCA1A Pro 431 Leu CCA>CTA 431 (c.1292) 4

    HGMD listed





    Link(56)
    Link(55)
    Link(64)
    Link(68)
    Link(29)
    OCA Leu 432 Val CTG>GTG 432 (c.1294) 4


    Compound:
    • single

    (49)
    OCA1B Tyr 433 Cys TAC>TGC 433 (c.1298) 4




    Link(74)
    OCA1B Tyr 433 ter TAC>TAG 433 (c.1299) 4




    Link(50)
    OCA1 Arg 434 Ile AGA>ATA 434 (c.1302) 4




    Link(46)
    OCA1 Asn 435 Asp AAT>GAT 435 (c.1303) 4




    Link(46)
    OCA1A Gly 436 Arg GGT>CGT 436 (c.1306) 4




    Link(23)
    OCA1A c.1314delCTTT TTC TTT ATT>TT_ ___ ATT 438 (c.1314) 4

    HGMD listed



    Compound:
    • W400L

    Link(40)
    Link(39)
    Link(56)
    Link(38)
    OCA1A c.1315delTTTinsC TTC TTT ATT>TTC CAT T 439 (c.1315) 4

    HGMD listed





    Link(2)
    OCA1 Phe 439 Val TTT>GTT 439 (c.1315) 5

    HGMD listed



    Compound:
    • W236S

    Link(48)
    OCA Ser 442 Pro TCC>CCC 442 (c.1324) 4


    Compound:
    • single

    (49)
    OCA1A Asp 444 Gly GAT>GGT 444 (c.1331) 4




    Link(46)
    OCA1A Gly 446 Ser GGC>AGC 446 (c.1336) 4

    HGMD listed


    V: 31
    Compound:
    • E78S
    • W80R
    • C289R
    • R217Q
    • Q285X

    Link(20)
    Link(23)
    Link(70)
    Link(58)
    Link(55)
    Link(40)
    Link(39)
    Link(48)
    Link(3)
    Link(16)
    Polymorphism Gly 446 Gly GGC>GGG 446 (c.1338) 4




    Link(46)
    OCA1A Asp 448 Asn GAC>AAC 448 (c.1342) 4




    Link(70)
    Link(23)
    Link(20)
    Link(46)
    Link(74)
    OCA1A Asp 448 Asn GAC>AAC 448 (c.1342) 4

    HGMD listed


    V: 32
    Homozygous
    Compound:
    • A355P
    • C289R

    Link(58)
    Link(55)
    Link(40)
    Link(39)
    Link(48)
    OCA1A Tyr 449 Cys TAT>TGT 449 (c.1346) 4




    Link(23)
    OCA1B c.1348insGG TAT AGC TAT>TAT GGA GCT AT 450 (c.1348) 4


    Compound
  • W400L
  • c.929insC
    Patients: Chinese
  • Link(72)
    Link(73)
    OCA1A Gln 453 ter CAA>TAA 453 (c.1357) 4

    HGMD listed





    Link(40)
    Link(39)
    Link(38)
    OCA1B IVS4+4a>g aaa gt>aga gt 455 (c.1366) IVS4




    Link(55)
    Link(20)
    OCA1B IVS4+5a>g aaa gt>aag gt 455 (c.1366) IVS4

    HGMD listed



    Compound:
    • single

    Link(58)
    OCA1 IVS4+1g>a A G gta>A G ata 455 (c.1366) IVS4


    Compound:
    • single

    Patients: France
    Link(51)
    Polymorphism Gly 456 Gly ag AC>ac TC 456 (c.1368) 5


    Splice site mutation?
    Link(46)
    OCA1 c.1379delTT TCT TTT CAA>TCT T__ CAA 460 (c.1379) 5




    Link(62)
    Link(6)
    SNP Phe 460 Ser TTT>TCT 460 (c.1379) 5

    rs13312744




    dbSNP
    OCA1 c.1393insT ATT AAG>ATTTAAG 465 (c.1393) 5


    Compound:
    • R402Q

    Patients: France
    Link(51)
    OCA1 Lys 465 ter AAG>TAG 465 (c.1393) 5


    Compound:
    • R402Q

    Patients: France
    Link(51)
    Polymorphism Ala 471 Ala GCG>GCA 471 (c.1413) 5




    Link(4)
    Link(46)
    OCA1 c.1423del11bp ATC TGG TCA TGG CTC>ATC ___ ___ ___ __C 475 (c.1423) 5




    Link(23)
    OCA1A Trp 475 ter TGG>TGA 475 (c.1425) 5


    Compound:
    • single
    • R116X

    Patients: Chinese carrier
    Link(72)
    Link(73)
    OCA1B Ala 481 Glu GCG>GAG 481 (c.1442) 5


    Compound:
    • single

    Patients: Chinese
    Link(73)
    Polymorphism Ala 482 Ala GCG>GCC 482 (c.1446) 5




    Link(46)
    OCA1A c.1468insT ACT GCC>ACT TGC C 490 (c.1468) 5

    HGMD listed

    rs61754399

    V: 33
    Compound:
    • c.505delCAG
    • M1V

    Patients: England
    Link(40)
    Link(55)
    Link(39)
    Link(56)
    Link(51)
    Link(16)
    OCA1A c.1468insT ACT GCC>ACT TGC C 490 (c.1468) 5

    HGMD listed

    rs61754399

    V: 33
    Compound:
    • c.505delCAG
    • M1V

    Patients: England
    Link(19)
    Link(20)
    Link(46)
    Link(23)
    Link(22)
    Link(7)
    OCA1 Ala 490 Gly GCC>GGC 490 (c.1469) 5


    Homozygous:
    Compound:
    • D383N

    Link(16)
    Link(23)
    OCA1A c.1502insC TGT CGT>TGT CCG T 501 (c.1502) 5

    HGMD listed


    V: 34


    Link(40)
    Link(39)
    Link(56)
    Link(55)
    Link(14)
    Link(46)
    OCA1B Gln 506 ter CAG>TAG 506 (c.1516) 5


    Compound:
    • R299C

    Patients: Chinese
    Link(73)
         

    References:

    1. Breimer,L.H., Winder,A.F., Jay,B., and Jay,M. Initiation codon mutation of the tyrosinase gene as a cause of human albinism. 1994; Clin.Chim.Acta. 227: 17-22.
      Link Goto Top
    2. Breimer,L.H., Winder,A.F., Panayiotidis,P., Jay,M., Moore,A., and Jay,B. A trinucleotide deletion together with a base duplication event at codon 439 in the human tyrosinase gene identifies a mutational hotspot. 1995; Clin.Chim.Acta. 243: 35-42.
      Link Goto Top
    3. Camand,O., Marchant,D., Boutboul,S., Pequignot,M., Odent,S., Dollfus,H., Sutherland,J., Levin,A., Menasche,M., Marsac,C., Dufier,J.L., Heon,E., and Abitbol,M. Mutation analysis of the tyrosinase gene in oculocutaneous albinism. 2001; Hum.Mutat. 17: 352
      Link Goto Top
    4. Chaki,M., Mukhopadhyay,A., Chatterjee,S., Das,M., Samanta,S., and Ray,K. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. 2005; Mol.Vis. 11:531-4.: 531-534.
      Link Goto Top
    5. Chaki,M., Mukhopadhyay,A., and Ray,K. Determination of variants in the 3'-region of the Tyrosinase gene requires locus specific amplification. 2005; Hum.Mutat. 26: 53-58.
      Link Goto Top
    6. Chaki,M., Sengupta,M., Mukhopadhyay,A., Subba,R., I, Majumder,P.P., Das,M., Samanta,S., and Ray,K. OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene. 2006; Ann.Hum.Genet. 70: 623-630.
      Link Goto Top
    7. Chintamaneni,C.D., Halaban,R., Kobayashi,Y., Witkop,C.J., Jr., and Kwon,B.S. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. 1991; Proc.Natl.Acad.Sci.U.S.A. 88: 5272-5276.
      Link Goto Top
    8. Coupry,I., Taine,L., Goizet,C., Soriano,C., Mortemousque,B., Arveiler,B., and Lacombe,D. Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. 2001; J.Med.Genet. 38: 35-38.
      Link Goto Top
    9. Fukai,K., Holmes,S.A., Lucchese,N.J., Siu,V.M., Weleber,R.G., Schnur,R.E., and Spritz,R.A. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 1995; Nat.Genet. 9: 92-95.
      Link Goto Top
    10. Gershoni Baruch,R., Rosenmann,A., Droetto,S., Holmes,S., Tripathi,R.K., and Spritz,R.A. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 1994; Am.J.Hum.Genet. 54: 586-594.
      Link Goto Top
    11. Giebel,L.B., Musarella,M.A., and Spritz,R.A. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. 1991; J.Med.Genet. 28: 464-467.
      Link Goto Top
    12. Giebel,L.B. and Spritz,R.A. RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. 1990; Nucleic.Acids.Res. 18: 3103
      Link Goto Top
    13. Giebel,L.B., Tripathi,R.K., King,R.A., and Spritz,R.A. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. 1991; J.Clin.Invest. 87: 1119-1122.
      Link Goto Top
    14. Giebel,L.B., Tripathi,R.K., Strunk,K.M., Hanifin,J.M., Jackson,C.E., King,R.A., and Spritz,R.A. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. 1991; Am.J.Hum.Genet. 48: 1159-1167.
      Link Goto Top
    15. Goto,M., Sato-Matsumura,K.C., Sawamura,D., Yokota,K., Nakamura,H., and Shimizu,H. Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. 2004; J.Dermatol.Sci. 35: 215-220.
      Link Goto Top
    16. Gronskov,K., Ek,J., Sand,A., Scheller,R., Bygum,A., Brixen,K., Brondum-Nielsen,K., and Rosenberg,T. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 2009; Invest Ophthalmol Vis.Sci. 50: 1058-1064.
      Link Goto Top
    17. Halaban,R., Svedine,S., Cheng,E., Smicun,Y., Aron,R., and Hebert,D.N. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. 2000; Proc.Natl.Acad.Sci.U.S.A. 97: 5889-5894.
      Link Goto Top
    18. Hattab,F.N. and Amin,W.M. Papillon-Lefevre syndrome with albinism: a review of the literature and report of 2 brothers. 2005; Oral Surg.Oral Med.Oral Pathol.Oral Radiol.Endod. 100: 709-716.
      Link Goto Top
    19. Hutton,S.M. and Spritz,R.A. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 2008; Invest Ophthalmol.Vis.Sci. 49: 868-872.
      Link Goto Top
    20. Hutton,S.M. and Spritz,R.A. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 2008; J.Invest Dermatol. 128: 2442-2450.
      Link Goto Top
    21. King,R.A., Mentink,M.M., and Oetting,W.S. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. 1991; Mol.Biol.Med. 8: 19-29.
      Link Goto Top
    22. King,R.A. and Oetting,W.S. Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism. 1992; Pigment Cell Res. Suppl 2: 249-253.
      Link Goto Top
    23. King,R.A., Pietsch,J., Fryer,J.P., Savage,S., Brott,M.J., Russell-Eggitt,I., Summers,C.G., and Oetting,W.S. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 2003; Hum.Genet. 113: 502-513.
      Link Goto Top
    24. King,R.A., Townsend,D., Oetting,W., Summers,C.G., Olds,D.P., White,J.G., and Spritz,R.A. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. 1991; J.Clin.Invest. 87: 1046-1053.
      Link Goto Top
    25. King,R.A., Willaert,R.K., Schmidt,R.M., Pietsch,J., Savage,S., Brott,M.J., Fryer,J.P., Summers,C.G., and Oetting,W.S. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2). 2003; Am.J.Hum.Genet. 73: 638-645.
      Link Goto Top
    26. Lin,S.Y., Chien,S.C., Su,Y.N., Lee,C.N., and Chen,C.P. Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system. 2006; Prenat.Diagn. 26: 466-470.
      Link Goto Top
    27. Matsunaga,J., Dakeishi Hara,M., Miyamura,Y., Nakamura,E., Tanita,M., Satomura,K., and Tomita,Y. Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. 1998; Dermatology. 196: 189-193.
      Link Goto Top
    28. Matsunaga,J., Dakeishi,M., Miyamura,Y., and Tomita,Y. Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism. 1997; Pigment Cell Res. 10: 64-67.
      Link Goto Top
    29. Matsunaga,J., Dakeishi,M., Shimizu,H., and Tomita,Y. R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. 1996; J.Dermatol.Sci. 13: 134-139.
      Link Goto Top
    30. Matsunaga,J., Dakeishi-Hara,M., Tanita,M., Nindl,M., Nagata,Y., Nakamura,E., Miyamura,Y., Kikuchi,K., Furue,M., and Tomita,Y. A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. 1999; Dermatology. 199: 124-129.
      Link Goto Top
    31. Miyamura,Y., Verma,I.C., Saxena,R., Hoshi,M., Murase,A., Nakamura,E., Kono,M., Suzuki,T., Yasue,S., Shibata,S., Sakakibara,A., and Tomita,Y. Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). 2005; J Invest Dermatol. 125: 397-398.
      Link Goto Top
    32. Morell,R., Spritz,R.A., Ho,L., Pierpont,J., Guo,W., Friedman,T.B., and Asher,J.H., Jr. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 1997; Hum.Mol.Genet. 6: 659-664.
      Link Goto Top
    33. Morris,S.W., Muir,W., and St Clair,D. Dinucleotide repeat polymorphism at the human tyrosinase gene. 1991; Nucleic.Acids.Res. 19: 6968
      Link Goto Top
    34. Nakamura,E., Miyamura,Y., Matsunaga,J., Kano,Y., keishi-Hara,M., Tanita,M., Kono,M., and Tomita,Y. A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). 2002; J.Dermatol.Sci. 28: 102-105.
      Link Goto Top
    35. Oetting,W.S., Fryer,J.P., and King,R.A. A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual. 1993; Hum.Mol.Genet. 2: 1047-1048.
      Link Goto Top
    36. Oetting,W.S., Fryer,J.P., and King,R.A. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). 1998; Hum.Mutat. 12: 433-434.
      Link Goto Top
    37. Oetting,W.S., Handoko,H.Y., Mentink,M.M., Paller,A.S., White,J.G., and King,R.A. Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism. 1991; J.Invest.Dermatol. 97: 15-19.
      Link Goto Top
    38. Oetting,W.S. and King,R.A. Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. 1992; Hum.Genet. 90: 258-262.
      Link Goto Top
    39. Oetting,W.S. and King,R.A. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. 1993; Hum.Mutat. 2: 1-6.
      Link Goto Top
    40. Oetting,W.S. and King,R.A. Analysis of tyrosinase mutations associated with tyrosinase- related oculocutaneous albinism (OCA1). 1994; Pigment Cell Res. 7: 285-290.
      Link Goto Top
    41. Oetting,W.S. and King,R.A. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. 1999; Hum.Mutat. 13: 99-115.
      Link Goto Top
    42. Oetting,W.S., Mentink,M.M., Summers,C.G., Lewis,R.A., White,J.G., and King,R.A. Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. 1991; Am.J.Hum.Genet. 49: 199-206.
      Link Goto Top
    43. Oetting,W.S., Pietsch,J., Brott,M.J., Savage,S., Fryer,J.P., Summers,C.G., and King,R.A. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 2009; Am.J.Med.Genet.A. 149A: 466-469.
      Link Goto Top
    44. Oetting,W.S., Roed,C.M., Mentink,M.M., and King,R.A. PCR detection of a TaqI polymorphism at the CCAATT box of the human tyrosinase (TYR) gene. 1991; Nucleic.Acids.Res. 19: 5800
      Link Goto Top
    45. Oetting,W.S., Skach,W.R., Fryer,J.P., and King,R.A. Unusual tyrosinase mutations associated with OCA1. 1993; Am.J.Hum.Genet. 53: 935 Goto Top
    46. Opitz,S., Kasmann-Kellner,B., Kaufmann,M., Schwinger,E., and Zuhlke,C. Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 2004; Hum.Mutat. 23: 630-631.
      Link Goto Top
    47. Park,S.K., Lee,K.H., Park,K.C., Lee,J.S., Spritz,R.A., and Lee,S.T. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. 1997; Mol.Cells. 7: 187-191.
      Link Goto Top
    48. Passmore,L., Ksmann-Kellner,B., and Weber,B.H.F. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 1999; Hum.Genet. 105: 200-210.
      Link Goto Top
    49. Preising,M.N., Forster,H., Gonser,M., and Lorenz,B. Mutations screening of TYR, OCA2, GPR143, and MC1R in Patients Identified by Congenital Nystagmus, Macular Hypoplasia and Hypopiogmentatof the Fundus; the Classical Features of Ocular and Oculocutaneous Albinism. 2010; submitted.
      Goto Top

    50. Ray,K., Chaki,M., and Sengupta,M. Gene symbol: TYR. Disease: albinism, oculocutaneous 1. 2006; Hum.Genet. 119: 675
      Link Goto Top
    51. Rooryck,C., Morice-Picard,F., Elcioglu,N.H., Lacombe,D., Taieb,A., and Arveiler,B. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. 2008; Pigment Cell Melanoma Res. 21: 583-587.
      Link Goto Top
    52. Rosenmann,A., Bejarano-Achache,I., Eli,D., Maftsir,G., Mizrahi-Meissonnier,L., and Blumenfeld,A. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families. 2009; Prenat.Diagn. 29: 939-946.
      Link Goto Top
    53. Santiago Borrero,P.J., Rodriguez-Perez,Y., Renta,J.Y., Izquierdo,N.J., Del,F.L., Munoz,D., Molina,N.L., Ramirez,S., Pagan-Mercado,G., Ortiz,I., Rivera-Caragol,E., Spritz,R.A., and Cadilla,C.L. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. 2006; J.Invest Dermatol. 126: 85-90.
      Link Goto Top
    54. Schnur,R.E., Sellinger,B.T., Holmes,S.A., Wick,P.A., Tatsumura,Y.O., and Spritz,R.A. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. 1996; J.Invest Dermatol. 106: 1137-1140.
      Link Goto Top
    55. Spritz,R.A. Molecular genetics of oculocutaneous albinism. 1993; Semin.Dermatol. 12: 167-172.
      Link Goto Top
    56. Spritz,R.A. Molecular genetics of oculocutaneous albinism. 1994; Hum.Mol.Genet. 3 Spec No: 1469-1475.
      Link Goto Top
    57. Spritz,R.A., Lee,S.T., Fukai,K., Brondum Nielsen,K., Chitayat,D., Lipson,M.H., Musarella,M.A., Rosenmann,A., and Weleber,R.G. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). 1997; Hum.Mutat. 10: 175-177.
      Link Goto Top
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