Home  |  Contact

UniProtKB/Swiss-Prot Q9BYT1: Variant p.Arg9Cys

Solute carrier family 17 member 9
Gene: SLC17A9
Variant information

Variant position:  9
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Arginine (R) to Cysteine (C) at position 9 (R9C, p.Arg9Cys).
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 (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. {ECO:0000269|PubMed:25180256}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In POROK8.
Any additional useful information about the variant.

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



Sequence information

Variant position:  9
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  436
The length of the canonical sequence.

Location on the sequence:   MQPPPDEA  R RDMAGDTQWSRPECQAWTGT
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                         MQPPPDEARRD---MAGDTQWSRPECQAWTGT

Mouse                         MQPIPEETRKTPSAAAEDTRWSRPECQAW

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 – 436 Solute carrier family 17 member 9
Alternative sequence 1 – 19 MQPPPDEARRDMAGDTQWS -> MTLTSRRQDSQEA. In isoform 2.


Literature citations

Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.
Cui H.; Li L.; Wang W.; Shen J.; Yue Z.; Zheng X.; Zuo X.; Liang B.; Gao M.; Fan X.; Yin X.; Shen C.; Yang C.; Zhang C.; Zhang X.; Sheng Y.; Gao J.; Zhu Z.; Lin D.; Zhang A.; Wang Z.; Liu S.; Sun L.; Yang S.; Cui Y.; Zhang X.;
J. Med. Genet. 51:699-704(2014)
Cited for: INVOLVEMENT IN POROK8; VARIANTS POROK8 CYS-9 AND GLN-311;

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.