UniProtKB/Swiss-Prot Q8IU80: Variant p.Leu674Phe

Transmembrane protease serine 6
Gene: TMPRSS6
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Variant information Variant position:

674 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 Leucine (L) to Phenylalanine (F) at position 674 (L674F, p.Leu674Phe). 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 medium size and hydrophobic (L) to large size and aromatic (F) 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

Sequence information Variant position:

674 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

811 The length of the canonical sequence.
Location on the sequence:

LLLHPYHEEDSHDYDVALLQ L DHPVVRSAAVRPVCLPARSH 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                         LLLHPYHEEDSHDYDVALLQLDHPVVRSAAVRPVCLPARSH

Mouse                         LFLHPYHEEDSHDYDVALLQLDHPVVYSATVRPVCLPARSH

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 – 811	Transmembrane protease serine 6
Topological domain	77 – 811	Extracellular
Domain	577 – 811	Peptidase S1
Active site	668 – 668	Charge relay system
Alternative sequence	462 – 811	Missing. In isoform 3.

Literature citations
Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.
Beutler E.; Van Geet C.; te Loo D.M.; Gelbart T.; Crain K.; Truksa J.; Lee P.L.;
Blood Cells Mol. Dis. 44:16-21(2010)
Cited for: VARIANTS ASP-228; GLU-253; TRP-446; PHE-674; ALA-736 AND ILE-795;

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.