Variant position: 226 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 638 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 MMDPILTTSVPVYSLKVDKE YEVRVRSKQRNSGNYGEFSEV
Rhesus macaque MMDPILSTSVPVYSLKVDKE YEVLVRSKRRNSRNYGEFSEV
Mouse VMGPIWLTYCPVYSLRMDKE HEVRVRSRQRSFEKYSEFSEV
Rat TMSPIWSTSVPLYSLRLDKE HEVRVRSRQRSFEKYSEFSEV
Pig MMDPVLSTSVPVYSLRLDKE YEVRVRSRQRNSEKYGEFSEV
Bovine MMDPLMVTSVPMYSLRLDKE YEVRVRTRQRNTEKYGKFSEV
Rabbit MMDPVLSTSVPVYSLRLDKE YEVRVRSRQRSSEKYGEFSEV
Sheep MMDPLLVTSVPMYSLRLDKE YEVRVRTRQRNTEKYGKFSEV
Chicken ELEPRLSTVVPLYSLKMGRD YEIRVRSRQRTSEKFGEFSEI
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
19 – 638 Growth hormone receptor
19 – 256 Growth hormone-binding protein
19 – 264 Extracellular
151 – 254 Fibronectin type-III
226 – 234
Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation.
Enberg B.; Luthman H.; Segnestam K.; Ritzen E.M.; Sundstroem M.; Norstedt G.;
Eur. J. Endocrinol. 143:71-76(2000)
Cited for: VARIANTS LARS CYS-226 AND ASN-262;
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