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UniProtKB/Swiss-Prot Q9UMX9: Variant p.Glu272Lys

Membrane-associated transporter protein
Gene: SLC45A2
Variant information

Variant position:  272
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glutamate (E) to Lysine (K) at position 272 (E272K, p.Glu272Lys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and acidic (E) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism:  Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM:227240]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.
Additional information on the polymorphism described.

Variant description:  Polymorphism; associated with variability of hair, eye and skin pigmentation; in Caucasians associated with dark hair, skin and eye color; strong protective effect for melanoma risk.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  272
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  530
The length of the canonical 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.




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.

Chain 1 – 530 Membrane-associated transporter protein
Topological domain 238 – 318 Cytoplasmic
Alternative sequence 188 – 295 Missing. In isoform 2.

Literature citations

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;

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.
Rundshagen U.; Zuehlke C.; Opitz S.; Schwinger E.; Kaesmann-Kellner B.;
Hum. Mutat. 23:106-110(2004)
Cited for: VARIANTS OCA4 ALA-58; CYS-202; PHE-221 DEL; CYS-317; PRO-361; THR-477 AND VAL-486; VARIANTS LYS-272 AND PHE-374;

MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids.
Yuasa I.; Umetsu K.; Watanabe G.; Nakamura H.; Endoh M.; Irizawa Y.;
Int. J. Legal Med. 118:364-366(2004)
Cited for: VARIANTS LYS-272; PHE-374 AND LEU-507;

Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.
Graf J.; Hodgson R.; van Daal A.;
Hum. Mutat. 25:278-284(2005)
Cited for: VARIANTS LYS-272 AND PHE-374;

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;

Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
Guedj M.; Bourillon A.; Combadieres C.; Rodero M.; Dieude P.; Descamps V.; Dupin N.; Wolkenstein P.; Aegerter P.; Lebbe C.; Basset-Seguin N.; Prum B.; Saiag P.; Grandchamp B.; Soufir N.; Saiag P.; Lebbe C.; Basset Seguin N.; Wolkenstein P.; Dupin N.; Descamps V.; Verola O.; Aegerter P.; Soufir N.;
Hum. Mutat. 29:1154-1160(2008)

Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
Shah S.A.; Raheem N.; Daud S.; Mubeen J.; Shaikh A.A.; Baloch A.H.; Nadeem A.; Tayyab M.; Babar M.E.; Ahmad J.;
Clin. Exp. Dermatol. 40:774-780(2015)
Cited for: VARIANT LYS-272;

Disclaimer: 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.