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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IU80: Variant p.Cys510Arg

Transmembrane protease serine 6
Gene: TMPRSS6
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Variant information Variant position: help 510 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Cysteine (C) to Arginine (R) at position 510 (C510R, p.Cys510Arg). 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 (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In IRIDA; reduced HJV-mediated inhibition of HAMP transcription; loss of catalytic activity; autoproteolytic and HJV processing are impaired. Any additional useful information about the variant.


Sequence information Variant position: help 510 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 811 The length of the canonical sequence.
Location on the sequence: help VCRATFQCKEDSTCISLPKV C DGQPDCLNGSDEEQCQEGVP 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                         VCRATFQCKEDSTCISLPKVCDGQPDCLNGSDEEQCQEGVP

Mouse                         VCRAMFQCQEDSTCISLPRVCDRQPDCLNGSDEEQCQEGVP
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 – 811 Transmembrane protease serine 6
Topological domain 77 – 811 Extracellular
Domain 490 – 526 LDL-receptor class A 2
Glycosylation 518 – 518 N-linked (GlcNAc...) asparagine
Disulfide bond 497 – 516
Disulfide bond 510 – 525
Alternative sequence 462 – 811 Missing. In isoform 3.



Literature citations
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
De Falco L.; Silvestri L.; Kannengiesser C.; Moran E.; Oudin C.; Rausa M.; Bruno M.; Aranda J.; Argiles B.; Yenicesu I.; Falcon-Rodriguez M.; Yilmaz-Keskin E.; Kocak U.; Beaumont C.; Camaschella C.; Iolascon A.; Grandchamp B.; Sanchez M.;
Hum. Mutat. 35:1321-1329(2014)
Cited for: VARIANTS IRIDA CYS-247; ASN-287; LEU-304; PHE-335; ARG-510; GLY-521; ARG-590; TRP-597; GLY-605; ARG-606 AND THR-623; CHARACTERIZATION OF VARIANTS IRIDA CYS-247; ASN-287; PHE-335; ARG-510; ARG-590; TRP-597; GLY-605 AND ARG-606; FUNCTION; SUBCELLULAR LOCATION; PROTEOLYTIC PROCESSING;
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.