Sequence information
Variant position: 279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 468 The length of the canonical sequence.
Location on the sequence:
AERSKTFTTWMVKDLQHHCV
I HDAWSGLRHVVQLRAQEEFG
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 AERSKTFTTWMVKDLQHHCVI HDAWSGLRHVVQLRAQEEFG
Mouse PVWSKEFTVLLLPVAQYQCVI HDALRGVKHVVQVRGKEELD
Rat PVWSKXFTVWPLQVAQHQCVI HDALRGVKHVVQVRGKEEFD
Pig AERSKTFTTWMVKELQHHCII HDAWSGMRHVVQLRAQEEFG
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
20 – 468
Interleukin-6 receptor subunit alpha
Chain
20 – 355
Soluble interleukin-6 receptor subunit alpha
Topological domain
20 – 365
Extracellular
Domain
218 – 316
Fibronectin type-III 2
Mutagenesis
277 – 277
C -> D. 30% increase of ligand-binding and 100% increase in IL6 signaling.
Mutagenesis
278 – 278
V -> N. 50% Decrease of ligand-binding and 50% increase in IL6 signaling.
Mutagenesis
279 – 279
I -> D. Complete loss of ligand-binding.
Mutagenesis
280 – 280
H -> I. No change of ligand-binding and no IL6 signaling.
Mutagenesis
281 – 281
D -> G. 70% decrease of ligand-binding and no IL6 signaling.
Mutagenesis
285 – 285
G -> D. 80% decrease of ligand-binding and no IL6 signaling.
Mutagenesis
291 – 291
Q -> K. Complete loss of ligand-binding.
Mutagenesis
293 – 293
R -> G. Complete loss of ligand-binding.
Beta strand
275 – 281
Literature citations
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
Spencer S.; Koestel Bal S.; Egner W.; Lango Allen H.; Raza S.I.; Ma C.A.; Guerel M.; Zhang Y.; Sun G.; Sabroe R.A.; Greene D.; Rae W.; Shahin T.; Kania K.; Ardy R.C.; Thian M.; Staples E.; Pecchia-Bekkum A.; Worrall W.P.M.; Stephens J.; Brown M.; Tuna S.; York M.; Shackley F.; Kerrin D.; Sargur R.; Condliffe A.; Tipu H.N.; Kuehn H.S.; Rosenzweig S.D.; Turro E.; Tavare S.; Thrasher A.J.; Jodrell D.I.; Smith K.G.C.; Boztug K.; Milner J.D.; Thaventhiran J.E.D.;
J. Exp. Med. 216:1986-1998(2019)
Cited for: INVOLVEMENT IN HIES5; VARIANTS HIES5 ASN-279 AND PRO-280; CHARACTERIZATION OF VARIANTS HIES5 ASN-279 AND PRO-280; FUNCTION;
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.