Variant position: 157 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 530 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KLVWAISVTMIGVVLFDFAA DFIDGPIKAYLFDVCSHQDKE
Mouse KLIWAISITMVGVVLFDFSA DFIDGPIKAYLFDVCSHQDKE
Pig KPIWAISITMTGVVLFDFAA DFIDGPIKAYLFDVCTHQDKE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 530 Membrane-associated transporter protein
139 – 159 Helical; Name=4
129 – 187 Missing. In isoform 3.
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
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.;
Am. J. Hum. Genet. 74:466-471(2004)
Cited for: VARIANTS OCA4 SER-58; ASN-157 AND VAL-188; VARIANTS LYS-272; PRO-500 AND LEU-507;
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.
Suzuki T.; Inagaki K.; Fukai K.; Obana A.; Lee S.-T.; Tomita Y.;
Br. J. Dermatol. 152:174-175(2005)
Cited for: VARIANT OCA4 ASN-157;
SLC45A2 variations in Indian oculocutaneous albinism patients.
Sengupta M.; Chaki M.; Arti N.; Ray K.;
Mol. Vis. 13:1406-1411(2007)
Cited for: VARIANTS OCA4 ILE-42; SER-64; ASN-157; SER-302 AND CYS-348; VARIANTS LYS-272 AND PHE-374;
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Wei A.; Wang Y.; Long Y.; Wang Y.; Guo X.; Zhou Z.; Zhu W.; Liu J.; Bian X.; Lian S.; Li W.;
J. Invest. Dermatol. 130:716-724(2010)
Cited for: VARIANTS OCA4 ARG-110; PRO-151; ASN-157; HIS-160; GLN-233; ARG-349; LYS-368 AND LEU-418;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.