Variant position: 404 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 918 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 ATKLTVNLTNDRYLATLTVR NLVGKSDAAVLTIPACDFQAT
Mouse GTELTVNLTNDRYVASLAAR NKVGKSAAAVLTIPSPHVTAA
Rat GTELIVNLTNNRYVASLAAR NVVGKSPATVLTIPGSHFKAS
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
23 – 918 Interleukin-6 receptor subunit beta
23 – 619 Extracellular
329 – 424 Fibronectin type-III 3
390 – 390 N-linked (GlcNAc...) (complex) asparagine
330 – 918 Missing. In isoform 2.
396 – 406
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Schwerd T.; Twigg S.R.F.; Aschenbrenner D.; Manrique S.; Miller K.A.; Taylor I.B.; Capitani M.; McGowan S.J.; Sweeney E.; Weber A.; Chen L.; Bowness P.; Riordan A.; Cant A.; Freeman A.F.; Milner J.D.; Holland S.M.; Frede N.; Mueller M.; Schmidt-Arras D.; Grimbacher B.; Wall S.A.; Jones E.Y.; Wilkie A.O.M.; Uhlig H.H.;
J. Exp. Med. 214:2547-2562(2017)
Cited for: VARIANT HIES4 TYR-404; INVOLVEMENT IN HIES4; FUNCTION; CHARACTERIZATION OF VARIANT HIES4 TYR-404;
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.