Variant position: 498 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 HRTYLRGNLAESKCYLITVT PVYADGPGSPESIKAYLKQAP
Mouse NRTHLRGRLLESKCYQITVT PVFATGPGGSESLKAYLKQAA
Rat NRTHLRGSLLESKCYLITVT PVFPGGPGSPESMKAYLKQAA
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
426 – 517 Fibronectin type-III 4
330 – 918 Missing. In isoform 2.
491 – 500
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
Shahin T.; Aschenbrenner D.; Cagdas D.; Bal S.K.; Conde C.D.; Garncarz W.; Medgyesi D.; Schwerd T.; Karaatmaca B.; Cetinkaya P.G.; Esenboga S.; Twigg S.R.F.; Cant A.; Wilkie A.O.M.; Tezcan I.; Uhlig H.H.; Boztug K.;
Cited for: VARIANT HIES4 LEU-498; INVOLVEMENT IN HIES4; FUNCTION; CHARACTERIZATION OF VARIANT HIES4 LEU-498;
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