Variant position: 262 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 EFSEVLYVTLPQMS-QFT-CEE DFYFPWLLIIIFGIFGLTVML
Rhesus macaque EFSEVLYVTLPQMN-QFT-CEE DFYFPWLLIIIFGIFGLTV
Mouse EFSEVLRVIFPQTN-ILEACEE DIQFPWFLIIIFGIFGVAV
Rat EFSEVLRVTFPQMD-TLAACEE DFRFPWFLIIIFGIFGVAV
Pig EFSEVLYVTLPQMS-PFA-CEE DFRFPWFLIIIFGIFGLTV
Bovine KFSEVLLITFPQMN-PSA-CEE DFQFPWFLIIIFGILGLAV
Rabbit EFSEVLYVTLPQMS-PFT-CEE DFRFPWFLIIIFGIFGLTV
Sheep KFSEVLLITFPQMN-PSA-CEE DFQFPWFLIIIFGILGLTV
Chicken EFSEILYVSFTQAGIEFVHCAE EIEFPWFLVVVFGVCGLAV
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 – 264 Extracellular
260 – 262 Required for ADAM17-mediated proteolysis
260 – 260 E -> A. No change in shedding activity: No change in hormone binding.
261 – 261 E -> A. No change in shedding activity: No change in hormone binding.
262 – 262 D -> A. No change in shedding activity: No change in hormone binding.
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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