UniProtKB/Swiss-Prot Q6NUT3: Variant p.Arg243His

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

243 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 Arginine (R) to Histidine (H) at position 243 (R243H, p.Arg243His). 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 basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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.
Other resources:

Links to websites of interest for the variant.

Variant rs10414812 [ dbSNP | Ensembl ]

Sequence information Variant position:

243 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:

LVVGVGAVFSLLFHLGTRER R RPHAEEPGEHTPLLAPATAQ 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                         LVVGVGAVFSLLFHLGTRERRRPH--AEEPGEHTPLLAPATAQ

Mouse                         LVVGVGAIFSLLFHLGTKEGHRSQHWGNEPNEHTPLVAPA-

Horse                         CVVGVGAVFSLLFHLGTRERRRPP--AQEPDERSPLLAPAT

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
Chain	1 – 480	Major facilitator superfamily domain-containing protein 12
Topological domain	240 – 279	Cytoplasmic
Modified residue	254 – 254	Phosphothreonine; by MTOR
Mutagenesis	254 – 254	T -> A. Abolished phosphorylation by MTOR; dominant-negative inhibitor of cysteine transporter activity.
Mutagenesis	254 – 254	T -> D. Mimics phosphorylation; enhanced cysteine and cystine storage in lysosomes.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.