UniProtKB/Swiss-Prot O15393: Variant p.Glu329Gln

Transmembrane protease serine 2
Gene: TMPRSS2
Feedback?

Variant information Variant position:

329 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 Glutamate (E) to Glutamine (Q) at position 329 (E329Q, p.Glu329Gln). 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 acidic (E) to medium size and polar (Q) 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
Other resources:

Links to websites of interest for the variant.

Variant rs775137340 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TAFAGILRQSFMFYGAGYQV E KVISHPNYDSKTKNNDIALM 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                         TAFAGILRQSFMFYGAGYQVEKVISHPNYDSKTKNNDIALM

Mouse                         TAFAGILRQSLMFYGSRHQVEKVISHPNYDSKTKNNDIALM

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	256 – 492	Transmembrane protease serine 2 catalytic chain
Topological domain	106 – 492	Extracellular
Domain	256 – 489	Peptidase S1
Active site	345 – 345	Charge relay system
Disulfide bond	244 – 365	Interchain (between non-catalytic and catalytic chains)
Beta strand	325 – 333

Literature citations
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3.
Paoloni-Giacobino A.; Chen H.; Peitsch M.C.; Rossier C.; Antonarakis S.E.;
Genomics 44:309-320(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MET-160 AND GLN-329; An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
Guipponi M.; Toh M.-Y.; Tan J.; Park D.; Hanson K.; Ballana E.; Kwong D.; Cannon P.Z.F.; Wu Q.; Gout A.; Delorenzi M.; Speed T.P.; Smith R.J.H.; Dahl H.-H.M.; Petersen M.; Teasdale R.D.; Estivill X.; Park W.J.; Scott H.S.;
Hum. Mutat. 29:130-141(2008)
Cited for: VARIANTS MET-160; CYS-254; GLN-329 AND ASN-491;

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.