Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UMX9: Variant p.Thr500Pro

Membrane-associated transporter protein
Gene: SLC45A2
Feedback?
Variant information Variant position: help 500 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Threonine (T) to Proline (P) at position 500 (T500P, p.Thr500Pro). 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: help Change from medium size and polar (T) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help 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.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 500 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 530 The length of the canonical sequence.
Location on the sequence: help TCMVQLAQILVGGGLGFLVN T AGTVVVVVITASAVALIGCC 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         TCMVQLAQILVGGGLGFLVNTAGTVVVVVITASAVALIGCC

Mouse                         TCMVQLAQILVGGGLGFLVNMAGSVVVVVITASAVSLIGCC

Pig                           TCMVQLAQILVGGGLGFLVNVVGSVVVVVITASAAALIGCC

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 530 Membrane-associated transporter protein
Topological domain 499 – 504 Extracellular
Alternative sequence 407 – 530 Missing. In isoform 2.
Alternative sequence 461 – 530 Missing. In isoform 4.



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;
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.