Variant position: 840 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1073 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 YEEVTIYFSDIVGFTTICKY STPMEVVDMLNDIYKSFDHIV
Mouse YEEVTIYFSDIVGFTTICKY STPMEVVDMLNDIYKSFDQIV
Rat YEEVTIYFSDIVGFTTICKY STPMEVVDMLNDIYKSFDQIV
Pig YEEVTIYFSDIVGFTTICKY STPMEVVDMLNDIYKSFDHIL
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
24 – 1073 Heat-stable enterotoxin receptor
455 – 1073 Cytoplasmic
824 – 954 Guanylate cyclase
Familial diarrhea syndrome caused by an activating GUCY2C mutation.
Fiskerstrand T.; Arshad N.; Haukanes B.I.; Tronstad R.R.; Pham K.D.; Johansson S.; Havik B.; Tonder S.L.; Levy S.E.; Brackman D.; Boman H.; Biswas K.H.; Apold J.; Hovdenak N.; Visweswariah S.S.; Knappskog P.M.;
N. Engl. J. Med. 366:1586-1595(2012)
Cited for: VARIANT DIAR6 ILE-840; CHARACTERIZATION OF VARIANT DIAR6 ILE-840;
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.