ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures

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	Protein Summary
	AS Summary
	Protein Functional Features
	Gene Isoform Structures and Expression Levels
	Protein Structures
	pLDDT Score Distribution
	Ramachandran Plot of Protein Structures
	Potential Active Site Information
	Protein Structure and Feature Comparision
	Protein-Protein Interaction
	Related Drugs
	Related Diseases
	Clinically Important Variants

Protein:GHSR

Protein Summary

Gene summary

Gene name: GHSR
ASpdb.0 ID: 2693
	Gene
Gene symbol	GHSR
Gene ID	2693
Gene name	growth hormone secretagogue receptor
Synonyms	GHDP\|GHS-R1a\|GHSR-1a
Cytomap	3q26.31
Type of gene	protein-coding
Description	growth hormone secretagogue receptor type 1GH-releasing peptide receptorGHRPGHS-Rghrelin receptor
Modification date	20240317
UniProtAcc	Q92847

Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Gene	GHSR	GO:0001616	growth hormone secretagogue receptor activity	8688086
Gene	GHSR	GO:0004930	G protein-coupled receptor activity	8688086
Gene	GHSR	GO:0007186	G protein-coupled receptor signaling pathway	8688086
Gene	GHSR	GO:0008154	actin polymerization or depolymerization	15232612
Gene	GHSR	GO:0009725	response to hormone	15232612
Gene	GHSR	GO:0009755	hormone-mediated signaling pathway	8688086
Gene	GHSR	GO:0009986	cell surface	8688086
Gene	GHSR	GO:0016520	growth hormone-releasing hormone receptor activity	8688086
Gene	GHSR	GO:0032691	negative regulation of interleukin-1 beta production	15232612
Gene	GHSR	GO:0032715	negative regulation of interleukin-6 production	15232612
Gene	GHSR	GO:0032720	negative regulation of tumor necrosis factor production	15232612
Gene	GHSR	GO:0043005	neuron projection	12890514
Gene	GHSR	GO:0045121	membrane raft	15232612
Gene	GHSR	GO:0046697	decidualization	17494105
Gene	GHSR	GO:0050728	negative regulation of inflammatory response	15232612

AS Summary

Information of the canonical protein with experimentally identified structure from PDB (2023).

UniProt Acc	File name	PDB ID	Method	Resolution	Chain	Start	End
Q92847-1	Q92847-1_6ko5_A.pdb	6KO5	X-ray	3.3	A	39	339

ASpdb's canonical and alternatively spliced isoform information.

accession_id

gene_name

canonical_id

alternative_id

canonical_length

alternative_length

canonical_start

canonical_end

type

originalSEQ

variationSEQ

alternative_start

alternative_end

Q92847

GHSR

Q92847-1

Q92847-2

366

289

266

289

Substitution

AVVVFAFILCWLPFHVGRYLFSKS

GGSQRALRLSLAGPILSLCLLPSL

266

289

Q92847

GHSR

Q92847-1

Q92847-2

366

289

290

366

Deletion

none

289

Multiple sequence alignment of our canonical and alternatively spliced GHSR

Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of GHSR

UniProt-id	ENSG	ENST	ENSP
Q92847-1	ENSG00000121853.4	ENST00000241256.3	ENSP00000241256.2
Q92847-2	ENSG00000121853.4	ENST00000427970.1	ENSP00000395344.1

UniProt-id	NM ID	NP ID
Q92847-1	NM_198407.2	NP_940799.1
Q92847-2	NM_004122.2	NP_004113.1

Amino acid sequences of our canonical and alternatively spliced GHSR

accession_id	Protein sequence
Q92847-1	MWNATPSEEPGFNLTLADLDWDASPGNDSLGDELLQLFPAPLLAGVTATCVALFVVGIAGNLLTMLVVSRFRELRTTTNLYLSSMAFSDL LIFLCMPLDLVRLWQYRPWNFGDLLCKLFQFVSESCTYATVLTITALSVERYFAICFPLRAKVVVTKGRVKLVIFVIWAVAFCSAGPIFV LVGVEHENGTDPWDTNECRPTEFAVRSGLLTVMVWVSSIFFFLPVFCLTVLYSLIGRKLWRRRRGDAVVGASLRDQNHKQTVKMLAVVVF AFILCWLPFHVGRYLFSKSFEPGSLEIAQISQYCNLVSFVLFYLSAAINPILYNIMSKKYRVAVFRLLGFEPFSQRKLSTLKDESSRAWT
Q92847-2	MWNATPSEEPGFNLTLADLDWDASPGNDSLGDELLQLFPAPLLAGVTATCVALFVVGIAGNLLTMLVVSRFRELRTTTNLYLSSMAFSDL LIFLCMPLDLVRLWQYRPWNFGDLLCKLFQFVSESCTYATVLTITALSVERYFAICFPLRAKVVVTKGRVKLVIFVIWAVAFCSAGPIFV LVGVEHENGTDPWDTNECRPTEFAVRSGLLTVMVWVSSIFFFLPVFCLTVLYSLIGRKLWRRRRGDAVVGASLRDQNHKQTVKMLGGSQR

Protein Functional Features

Main function of this protein. (from UniProt)

GHSR (go to UniProt):Q92847

Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Accession_id	Subsection	Start	End	Funcitonal feature	Splicing information
Q92847	Transmembrane	264	285	Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255	Type=Substitution;Start=266;End=289
Q92847	Topological domain	286	302	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255	Type=Substitution;Start=266;End=289
Q92847	Topological domain	286	302	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255	Type=Deletion;Start=290;End=366
Q92847	Transmembrane	303	326	Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255	Type=Deletion;Start=290;End=366
Q92847	Topological domain	327	366	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255	Type=Deletion;Start=290;End=366

Gene Isoform Structures and Expression Levels for GHSR

Gene structures of our canonical and alternative spliced genes of GHSR
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Expression levels of gene isoforms across GTEx.

Expression levels of gene isoforms across TCGA.

Protein Structures

PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

3D view using mol* of Q92847-1

3D view using mol* of Q92847-2

pLDDT Score Distribution

pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

pLDDT distribution across the protein length of Q92847-1

pLDDT distribution across the protein length of Q92847-2

Ramachandran Plot of Protein Structures

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.

Ramachandran plot of Q92847-1

Ramachandran plot of Q92847-2

Potential Active Site Information

The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.

UniProt-id	Site score	Size	D score	Volume	Exposure	Enclosure	Contact	Phobic	Philic	Balance	Don/Acc	Residues
Q92847-1	1.093	233	1.143	1044.778	0.579	0.762	1.017	1.208	0.779	1.551	1.31	33,34,35,36,37,38,43,99,102,103,104,105,106,107,11 9,120,123,124,127,128,178,182,199,200,210,213,214, 217,218,221,222,276,279,280,281,283,284,286,287,29 0,298,299,302,303,305,306,308,309,312
Q92847-2	0.899	68	0.93	192.08	0.578	0.644	0.922	1.361	0.71	1.917	1.234	30,31,34,35,38,40,42,43,46,102,103,104,105,106,107

Protein Structure and Feature Comparision

Protein Structure Comparision Using Template Modeling Scores (TM-score).

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)

3D view using mol* of Q92847-1_Q92847-1_6ko5_A.pdb

Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q92847-1_6ko5_A_Q92847-2.pdb

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q92847-1_Q92847-2.pdb

Protein Feature Comparison of the protein sequendary structures among the protiens.

./stats/secondary_structure/figure/Q92847-1_vs_Q92847-2.png

Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.

./stats/relative_asa/Q92847-1_vs_Q92847-2.png

Protein-Protein Interaction

Interactors from UniProt.

Accession_id

Subsection

Start

End

Funcitonal feature

Splicing information

Interactors from STRING.

Gene name

Interactors

Related Drugs to GHSR

Drugs targeting this gene/protein.
(DrugBank)

UniProt accession	Gene name	DrugBank ID	Drug name	Drug group	Actions
Q92847	GHSR	DB15488	Echinacoside	experimental	agonist
Q92847	GHSR	DB12128	Ulimorelin	investigational
Q92847	GHSR	DB13074	Macimorelin	approved, investigational	agonist

Related Diseases to GHSR

Previous studies relating to the alternative splicing of GHSR and disease information from the MeSH term (PubMed)

Gene

PMID

Title

Abstract

MeSH ID

MeSH term

Clinically important variants in GHSR

(ClinVar, 04/20/2024)

accession_id	uniprot_id	gene_name	Type	Variant	Clinical_significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala204Glu	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala204Glu	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Trp2Ter	Pathogenic
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Trp2Ter	Pathogenic
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg237Trp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg237Trp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu91Phe	Benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu91Phe	Benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu73Asp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu73Asp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg283Ter	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg283Ter	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Gly293fs	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Gly293fs	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Met264fs	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Met264fs	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg357Gln	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg357Gln	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val332Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val332Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Cys275Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Cys275Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Cys275Arg	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Cys275Arg	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Lys259Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Lys259Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu42Val	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu42Val	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala23Val	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala23Val	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg206Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg206Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg357Trp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg357Trp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu274Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu274Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala358Thr	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala358Thr	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Gly245Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Gly245Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp32Glu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp32Glu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg141Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg141Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg141Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg141Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu185Ter	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu185Ter	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg199Gly	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg199Gly	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val182Ala	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val182Ala	Conflicting classifications of pathogenicity
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile167Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile167Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Tyr128Ter	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Tyr128Ter	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu9Lys	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu9Lys	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro224Ala	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro224Ala	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Met264Ile	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Met264Ile	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Phe279fs	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Phe279fs	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu348Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu348Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser7Gly	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser7Gly	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Lys238Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Lys238Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser252Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser252Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp32Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp32Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile134Thr	Likely benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile134Thr	Likely benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu149Ile	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu149Ile	Uncertain significance
Q92847	Q92847-1	GHSR	Duplication	p.Gly26fs	Uncertain significance
Q92847	Q92847-1	GHSR	Duplication	p.Gly26fs	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu33Lys	Likely benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu33Lys	Likely benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile178Thr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile178Thr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val267Ala	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val267Ala	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr49Ile	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr49Ile	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr64Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr64Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Trp109Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Trp109Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala44Val	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala44Val	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro320His	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro320His	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val214Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val214Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser289Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser289Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Phe147Tyr	Likely benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Phe147Tyr	Likely benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr201Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr201Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro177Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro177Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg331Trp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg331Trp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser355Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser355Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg237Lys	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg237Lys	Uncertain significance
Q92847	Q92847-1	GHSR	Indel	p.Asp18_Leu19delinsGluVal	Uncertain significance
Q92847	Q92847-1	GHSR	Indel	p.Asp18_Leu19delinsGluVal	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro292Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro292Ser	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Ser349fs	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Ser349fs	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp113His	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp113His	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr78Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr78Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu187Lys	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu187Lys	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Thr64fs	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Thr64fs	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu314Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu314Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr5Met	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr5Met	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp20Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp20Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val216Ala	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val216Ala	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Phe12fs	Uncertain significance
Q92847	Q92847-1	GHSR	Deletion	p.Phe12fs	Uncertain significance
Q92847	Q92847-1	GHSR	Duplication	p.Trp193fs	Uncertain significance
Q92847	Q92847-1	GHSR	Duplication	p.Trp193fs	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile58Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile58Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser123Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser123Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro278Thr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Pro278Thr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile235Thr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile235Thr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu19Gln	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu19Gln	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu73Gln	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Glu73Gln	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Met326Ile	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Met326Ile	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val55Met	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val55Met	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Cys50Ter	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Cys50Ter	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser123Gly	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser123Gly	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.His258Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.His258Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Lys117Thr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Lys117Thr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu34Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu34Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr5Lys	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr5Lys	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp246Ala	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp246Ala	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu80Val	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu80Val	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile58Met	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile58Met	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val51Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val51Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg70Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg70Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala17Asp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ala17Asp	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val170Met	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val170Met	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Trp215Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Trp215Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Gly183Ala	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Gly183Ala	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Phe93Cys	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Phe93Cys	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Phe93Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Phe93Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser363Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ser363Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg150Gln	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Arg150Gln	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Phe38Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Phe38Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp18Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp18Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile235Val	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile235Val	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.His258Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.His258Tyr	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile273Val	Likely benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile273Val	Likely benign
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val249Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Val249Leu	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu53Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu53Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu118Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu118Arg	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp18Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Asp18Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu277Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Leu277Phe	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr350Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Thr350Ser	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Gln260Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Gln260Pro	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile325Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Ile325Asn	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Gln36His	Uncertain significance
Q92847	Q92847-1	GHSR	single nucleotide variant	p.Gln36His	Uncertain significance