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UniProtKB/Swiss-Prot Q6NUT3: Variant p.Tyr182His

Major facilitator superfamily domain-containing protein 12
Gene: MFSD12
Variant information

Variant position:  182
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Tyrosine (Y) to Histidine (H) at position 182 (Y182H, p.Tyr182His).
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 large size and aromatic (Y) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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 MFSD12 cause skin pigmentation variation (PubMed:29025994, PubMed:30664655). Skin pigmentation is among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification (PubMed:29025994, PubMed:30664655). In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator (PubMed:29025994, PubMed:30664655). His-192 is commonly found in East Asians and Native Americans only, and significantly correlates with lower solar radiation intensity in East Asia (PubMed:30664655).
Additional information on the polymorphism described.

Variant description:  Influences skin pigmentation.
Any additional useful information about the variant.

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



Sequence information

Variant position:  182
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  480
The length of the canonical sequence.

Location on the sequence:   EKVELTALRYAFTVVANITV  Y GAAWLLLHLQGSSRVEPTQD
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                         EKVELTALRYAFTVVANITVYGAAWLLLHLQGSSRVEPTQD

Mouse                         EKVELTALRYAFTVVANITVYGAAWLLLHLQGSAHGE--QD

Horse                         EKVELTALRYAFTVVANITVFGAAWLLLRLQGSAREGPPDE

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.

TypePositionsDescription
Chain 1 – 480 Major facilitator superfamily domain-containing protein 12
Transmembrane 171 – 191 Helical


Literature citations

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.
Adhikari K.; Mendoza-Revilla J.; Sohail A.; Fuentes-Guajardo M.; Lampert J.; Chacon-Duque J.C.; Hurtado M.; Villegas V.; Granja V.; Acuna-Alonzo V.; Jaramillo C.; Arias W.; Lozano R.B.; Everardo P.; Gomez-Valdes J.; Villamil-Ramirez H.; Silva de Cerqueira C.C.; Hunemeier T.; Ramallo V.; Schuler-Faccini L.; Salzano F.M.; Gonzalez-Jose R.; Bortolini M.C.; Canizales-Quinteros S.; Gallo C.; Poletti G.; Bedoya G.; Rothhammer F.; Tobin D.J.; Fumagalli M.; Balding D.; Ruiz-Linares A.;
Nat. Commun. 10:358-358(2019)
Cited for: POLYMORPHISM; VARIANT HIS-182;

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.