Variant position: 244 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 KEYEVRVRSKQRNSGNYGEF SEVLYVTLPQMS-QFT-CEEDFY
Rhesus macaque KEYEVLVRSKRRNSRNYGEF SEVLYVTLPQMN-QFT-CEED
Mouse KEHEVRVRSRQRSFEKYSEF SEVLRVIFPQTN-ILEACEED
Rat KEHEVRVRSRQRSFEKYSEF SEVLRVTFPQMD-TLAACEED
Pig KEYEVRVRSRQRNSEKYGEF SEVLYVTLPQMS-PFA-CEED
Bovine KEYEVRVRTRQRNTEKYGKF SEVLLITFPQMN-PSA-CEED
Rabbit KEYEVRVRSRQRSSEKYGEF SEVLYVTLPQMS-PFT-CEED
Sheep KEYEVRVRTRQRNTEKYGKF SEVLLITFPQMN-PSA-CEED
Chicken RDYEIRVRSRQRTSEKFGEF SEILYVSFTQAGIEFVHCAEE
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
240 – 244 WSXWS motif
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.
The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: suppression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.
Jorge A.A.L.; Souza S.C.A.L.; Arnhold I.J.P.; Mendonca B.B.;
Clin. Endocrinol. (Oxf.) 60:36-40(2004)
Cited for: VARIANT LARS ILE-244;
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