UniProtKB/SwissProt variant VAR

Variant information

Variant position:

134

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 134 (E134Q, p.Glu134Gln).

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 rs2824790 [ dbSNP | Ensembl ]

Sequence information

Variant position:

134

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

Protein sequence length:

1019

The length of the canonical sequence.

Location on the sequence:

FENGSIIVVFDLFFAQWVSD E NVKEELIQGLEANKSSQLVT

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                         FENGSIIVVFDLFFAQWVSDENVKEELIQGLEANKSSQLVT

Mouse                         FEKGSVIVLFDLFFAQWVSDKNVKEELIQGIEANISSQLVT

Pig                           FENGSVIVIFDLLFAQWVSDENIKEELIQGIEANKSSQLVA

Bovine                        FENGSIIVIFDLLFDQWVSDKNVKEELIQGIEANKSSQLVT

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	2 – 784	Enteropeptidase non-catalytic heavy chain
Topological domain	48 – 1019	Extracellular
Domain	54 – 169	SEA
Glycosylation	116 – 116	N-linked (GlcNAc...) asparagine
Glycosylation	147 – 147	N-linked (GlcNAc...) asparagine

Literature citations

cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen.
Kitamoto Y.; Veile R.A.; Donis-Keller H.; Sadler J.E.;
Biochemistry 34:4562-4568(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS GLN-134 AND SER-732;

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.
Holzinger A.; Maier E.M.; Buck C.; Mayerhofer P.U.; Kappler M.; Haworth J.C.; Moroz S.P.; Hadorn H.-B.; Sadler J.E.; Roscher A.A.;
Am. J. Hum. Genet. 70:20-25(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-134 AND SER-732; INVOLVEMENT IN ENTKD;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLN-134 AND SER-732;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P98073: Variant p.Glu134Gln