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 FENGSIIVVFDLFFAQWVSDE NVKEELIQGLEANKSSQLVT
Mouse FEKGSVIVLFDLFFAQWVSDK NVKEELIQGIEANISSQLVT
Pig FENGSVIVIFDLLFAQWVSDE NIKEELIQGIEANKSSQLVA
Bovine FENGSIIVIFDLLFDQWVSDK NVKEELIQGIEANKSSQLVT
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;
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.