Variant position: 658 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 770 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 EPYTKQQLNNMSFAEIIMGY KIMDATNILVSPLVYLYPDIP
Mouse EPYTKQQLNNMSFAEIIMGY KIMDATNILVSPLVYLYPDIP
Rat EPYTKQQLNNMSFAEIIMGY KIMDATNILVSPLVYLYPDIP
Pig EPYTKQQLNNMSFAEIIMGY KIMDATNILVSPLVYLYPDIP
Bovine EPYTKQQLNNMSFAEIIMGY KIMDATNILVSPLVYLYPDIP
Chicken EPYTKQQLNSMSFAEIIMGY KIMDATNILVSPLVYLYPDIP
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 – 770 Signal transducer and activator of transcription 3
580 – 670 SH2
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan S.E.; Haapaniemi E.; Russell M.A.; Caswell R.; Lango Allen H.; De Franco E.; McDonald T.J.; Rajala H.; Ramelius A.; Barton J.; Heiskanen K.; Heiskanen-Kosma T.; Kajosaari M.; Murphy N.P.; Milenkovic T.; Seppaenen M.; Lernmark A.; Mustjoki S.; Otonkoski T.; Kere J.; Morgan N.G.; Ellard S.; Hattersley A.T.;
Nat. Genet. 46:812-814(2014)
Cited for: VARIANTS ADMIO1 ARG-392; LYS-646; ASN-658 AND MET-716; INVOLVEMENT IN ADMIO1;
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.