Variant position: 732 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:
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 SNDVCQLLGLGSGNSSKPIF PTDGGPFVKLNTAPDGHLILT
Mouse SNEVCHLLGLGSANSSMPIS STGGGPFVRVNQAPNGSLILT
Pig SDDVCQLLGLGTGNSSMPFF SSGGGPFVKLNTAPNGSLILT
Bovine SDDVCQLLGLGTGNSSVPTF STGGGPYVNLNTAPNGSLILT
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
2 – 784 Enteropeptidase non-catalytic heavy chain
48 – 1019 Extracellular
678 – 771 SRCR
725 – 725 N-linked (GlcNAc...) asparagine
cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen.
Kitamoto Y.; Veile R.A.; Donis-Keller H.; Sadler J.E.;
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;
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.