Albiniam Database, University of Minnesota

Mutations of the Membrane Associated Transporter Protein (MATP) Gene (aka SLC45A2)

Associated with OCA4

Last update September 8, 2009

Mutations of the membrane associated transporter protein (MATP) gene associated with OCA4.

Polymorphisms of the membrane associated transporter protein gene.

Go to this link for a map of mutations of the membrane associated transporter protein (MATP) gene associated with OCA4.

The Albinism Database is part of the Locus Specific Mutation Databases of the Human Genome Variation Society.

Membrane associated transporter protein (MATP) gene mutations associated with OCA4

Name
Nucleotide Change*
Effect on coding Sequence
Exon
Type
Population
Reference
Leu36X c.106delT Frameshift EX1 OCA Caucasian Rooryck et al., 2006
M42I c.126G>A p.Met42Ile EX1 OCA Indian Sengupta et al., 2007
G44R c.130G>A p.Gly44Arg EX1 OCA Caucasian Hutton and Spritz, 2008b
Y49C c.146A>G p.Tyr49Cys EX1 OCA Japanese Inagaki et al., 2006
P58A c.172C>G p.Pro58Ala EX1 OCA German Rundshagen et al., 2004
P58S c.172C>T p.Pro58Ser EX1 OCA Japanese Inagaki et al., 2004
G64S c.190G>A p.Gly64Ser EX1 OCA Indian Sengupta et al., 2007
G89R c.265G>A p.Gly89Arg EX1 OCA Japanese Inagaki et al., 2006
S90CGGCCA>GC c.269-274CGGCCA>GC Frameshift EX1 OCA Japanese Inagaki et al., 2004
G100S c.298G>A p.Gly200Ser EX1 OCA Caucasian Hutton and Spritz, 2008b
R101C c301C>T p.Arg101Cys EX1 OCA Caucasian Hutton and Spritz, 2008b
IVS1-1G->A c.386-1G>A Splice mutation IVS1 OCA Turkish Newton et al., 2001
V144insAAGT c.432insAAGT Frameshift EX2 OCA Japanese Inagaki et al., 2004
D157N c.469G>A p.Asp157Asn EX2 OCA Japanese Inagaki et al., 2004
Suzuki et al., 2005
Sengupta et al., 2007
G188V c.564G>T p.Gly188Val EX3 OCA Japanese Inagaki et al., 2004
G198D c.593G>A p.Gly198Asp EX3 OCA Caucasian Hutton and Spritz, 2008b
W202C c.606G>C p.Trp202Cys EX3 OCA German Rundshagen et al., 2004
661-663del c.661-663del p.Phe221del EX3 OCA German Rundshagen et al., 2004
C229Y c.686G>A p.Cys229Tyr EX3 OCA Japanese Inagaki et al., 2006
Y278X c.834C>G p.Tyr278Ter EX3 OCA Caucasian Hutton and Spritz, 2008b
R298C p.Arg298Cys EX3 Poly? Caucasian Hutton and Spritz, 2008
E272K c.814G/A p.Glu272Lys EX3 OCA German Rundshagen et al., 2004
Nakayama et al., 2002
T302S c.904A>G p.Trp302Ser EX4 OCA Indian Sengupta et al., 2007
Y317C c.950A>G p.Tyr317Cys EX4 OCA German Rundshagen et al., 2004
986delC c.986delC Frameshift EX4 OCA German Rundshagen et al., 2004
Hutton and Spritz, 2008b
M335R c.1004T>G p.Met335Arg EX4 OCA Caucasian Hutton and Spritz, 2008b
R348C c.1042C.T p.Arg348Cys EX4 OCA Indian Sengupta et al., 2007
1164delAA c.1164_1166delAA Frameshift EX5 OCA Caucasian Hutton and Spritz, 2008b
R356E c.1066G>A p.Arg356Glu EX5 OCA Caucasian Rooryck et al., 2006
1074delAG c.1074_1077delAG Frameshift EX5 OCA Caucasian Hutton and Spritz, 2008b
L361P c.1082T>C p.Leu361Pro EX5 OCA German Rundshagen et al., 2004
L374fsX397 c.1121delT Frameshift p.Leu374fsX397 EX5 OCA Brazilian Lezirovitz et al., 2006
1179-1203dup c.1179-1203dup p.Tyr401X EX6 OCA German Rundshagen et al., 2004
T437A c.1309A>G p.Thr437Ala EX6 OCA Japanese Inagaki et al., 2006
T440A c.1318A>G p.Thr440Ala EX6 OCA Japanese Inagaki et al., 2006
V469delG Frameshift EX7 OCA Japanese Inagaki et al., 2004
G473D c.1418G>A p.Gly473Asp EX7 OCA Japanese Inagaki et al., 2006
A477T c.1429G>A p.Ala477Thr EX7 OCA German Rundshagen et al., 2004
A486V c.1457C>T p.Ala486Val EX7 OCA German Rundshagen et al., 2004
A501D c.1502C>A p.Ala501Asp EX7 OCA Caucasian Hutton and Spritz, 2008b
V507L c.1519G>C p.Val507Leu EX7 OCA Japanese Inagaki et al., 2004
1567-1574dup c.1567-1574dup Frameshift EX7 OCA German Rundshagen et al., 2004

Nucleotide 1 begins at the first nucleotide of codon 1

Polymorphisms of the Membrane associated transporter protein (MATP) gene

Name
Nucleotide Change*
Effect on coding Sequence
Exon
rs#
Population
Reference
E/K272 c.814G/A p.272Glu/Lys EX3 Japanese Nakayama et al., 2002
Inagaki et al., 2004
IVS3+14A/G c.888+14A/G None IVS3 Japanese Inagaki et al., 2004
318R/C c.952C/T p.318Arg/Cys EX4 rs35990319 dbSNP dbSNP not published
987G/A c.987G/A No change Thr329 EX4 Turkish Newton et al., 2001
IVS4-6T/C c.1036-6T/C None IVS4 Japanese Inagaki et al., 2004
IVS4-4A/C c.1036-4A/C None IVS4
None
 Japanese Inagaki et al., 2004
F/L374 c.1122G/C p.374Phe/Leu EX5 Turkish Newton et al., 2001
Hutton and Spritz, 2008a
Hutton and Spritz, 2008b
T/P500 c.1498A/C p.500T/P EX7 Japanese Inagaki et al., 2004
V507L c.1519G>C p.Val507Leu EX7 rs3733808 Japanese dbSNP
Inagaki et al., 2004
1594G/A c.1594G/A 3'UTR EX7 rs3822467 Japanese Inagaki et al., 2004
1593+24A/C c.1593+24A/C 3' UTR EX7
None
 Indian Sengupta et al., 2007

Nucleotide 1 begins at the fist nucleotide of codon 1

References

Inagaki, K., Suzuki, T., Shimizu, H., Ishii, N., Umezawa, Y., Tada, J., Kikuchi, N., Takata, M., Takamori, K., Kishibe, M., Tanaka, M., Miyamura, Y., Ito, S., Tomita, Y. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. American Journal of Human Genetics74:466-471, 2004. [Link to article (PubMed)]

Hutton SM, Spritz RA. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci. 49:868-72, 2008a. [Link to article (PubMed)]

Hutton SM, Spritz RA., Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. Journal of Investigative Dermatology 128:2442-2450, 2008b. [Link to article (PubMed)]

Inagaki, K., Suzuki, T., Ito, S., Suzuki, N., Adachi K., Okuyama T., Nakata Y., Shimizu H., Matsuura H., Oono T., Iwamatsu H., Kono M., Tomita Y. Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes. Pigment Cell Res. 19:451-453, 2006. [Link to article (PubMed)]

Lezirovitz K., Nicastro F. S., Pardono E., Abreu-Silva R. S., Batissoco A. C., Neustein I., Spinelli M., Mingroni-Netto R. C. Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"? J. Hum. Genet. 51:716-720, 2006. [Link to article (PubMed)]

Nakayama, K., Fukamachi, S., Kimura, H., Koda, Y., Soemantri, A., Ishida, T. Distinctive distribution of AIM1 polymorphism among major human populations with different skin color. Journal of Human Genetics 47:92-94, 2002. [Link to article (PubMed)]

Newton, J. M., Cohen-Barak, O., Hagiwara, N., Gardner, J. M., Davisson, M. T., King, R. A., Brilliant, M. H. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. American Journal of Human Genetics 69:981-988, 2001. [Link to article (PubMed)]

Rooryck C, Roudaut C, Robine E, Müsebeck J, Arveiler B. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment Cell Reserach 19:239-242, 2006

Rundshagen, U., Zuhlke, C., Optiz, S., Schwinger, E., Kasman-Kellnew, B. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Human Mutation 23:106-110, 2004. [Link ot article (PubMed)]

Sengupta M., Chaki M., Arti N., Ray K. SLC45A2 variations in Indian oculocutaneous albinism patients. Molecular Vision 13:1406-1411, 2007. [Link to article (PubMed)]

Yuasa I., Umetsu K., Harihara S., Kido A., Miyoshi A., Saitou N., Dashnyam B., Jin F., Lucotte G., Chattopadhyay P. K., Henke L., Henke J. Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. Annals of Human Genetics 70:802-11, 2006. [Link to article (PubMed)]

Suzuki, T., Inagaki, K., Fukai, K., Obana, A., Lee, S-T., Tomita, Y. A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. Br. J. Dermatol. 152:174-175, 2005. [Link ot article (PubMed)]

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Last changed September 8, 2009.