Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000326139
Querying Taster for transcript #2: ENST00000409904
Querying Taster for transcript #3: ENST00000409233
Querying Taster for transcript #4: ENST00000409316
Querying Taster for transcript #5: ENST00000337750
MT speed 0 s - this script 4.348274 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GHRHRdisease_causing_automatic0.516154909129738simple_aaeaffected0A158Esingle base exchangers121918120show file
GHRHRdisease_causing_automatic0.652571025087196simple_aaeaffected0A222Esingle base exchangers121918120show file
GHRHRdisease_causing_automatic1without_aaeaffected0single base exchangers121918120show file
GHRHRdisease_causing_automatic1without_aaeaffected0single base exchangers121918120show file
GHRHRdisease_causing_automatic1without_aaeaffected0single base exchangers121918120show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.516154909129738 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010308)
  • known disease mutation: rs15993 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31013667C>AN/A show variant in all transcripts   IGV
HGNC symbol GHRHR
Ensembl transcript ID ENST00000409904
Genbank transcript ID N/A
UniProt peptide Q02643
alteration type single base exchange
alteration region CDS
DNA changes c.473C>A
cDNA.731C>A
g.35384C>A
AA changes A158E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 158
frameshift no
known variant Reference ID: rs121918120
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs15993 (pathogenic for Isolated growth hormone deficiency, type 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.311
0.6710.898
(flanking)-0.7650.797
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained353800.31mu: GGCTGTTGGAAGAAG CTGT|tgga
distance from splice site 68
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      158FATMTNFSWLLAEAVYLNCLLAST
mutated  not conserved    158FATMTNFSWLLEEAVYLNCLLAS
Ptroglodytes  all identical  ENSPTRG00000019048  222FATMTNFSWLLAEAVYLTCLLAS
Mmulatta  all identical  ENSMMUG00000011764  158FATMTNFSWLLAEAVYLTCLLAS
Fcatus  not conserved  ENSFCAG00000002543  220FTTMTNFSWLLVEAVYLTCLLAS
Mmusculus  all identical  ENSMUSG00000004654  222LATMTNFSWLLAEAVYLSCLLAS
Ggallus  not conserved  ENSGALG00000005212  219YFMMTNFIWLLVEALYLNCLLLS
Trubripes  not conserved  ENSTRUG00000017747  225YCVMANFFWLLVEALYLNSLLVS
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
153162TOPO_DOMCytoplasmic (Potential).lost
163181TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
178178CONFLICTA -> R (in Ref. 1; AAA35890).might get lost (downstream of altered splice site)
182204TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
205227TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
228240TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
241262TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
263280TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
281304TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
305329TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
330348TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
349361TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
362381TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
382423TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1338 / 1338
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 259 / 259
chromosome 7
strand 1
last intron/exon boundary 1213
theoretical NMD boundary in CDS 904
length of CDS 1080
coding sequence (CDS) position 473
cDNA position
(for ins/del: last normal base / first normal base)		 731
gDNA position
(for ins/del: last normal base / first normal base)		 35384
chromosomal position
(for ins/del: last normal base / first normal base)		 31013667
original gDNA sequence snippet CAACTTCAGCTGGCTGTTGGCAGAAGCCGTCTACCTGAACT
altered gDNA sequence snippet CAACTTCAGCTGGCTGTTGGAAGAAGCCGTCTACCTGAACT
original cDNA sequence snippet CAACTTCAGCTGGCTGTTGGCAGAAGCCGTCTACCTGAACT
altered cDNA sequence snippet CAACTTCAGCTGGCTGTTGGAAGAAGCCGTCTACCTGAACT
wildtype AA sequence MVPGTPSPLL GRGKELWLES LACLPGAVKR DCTITGWSEP FPPYPVACPV PLELLAEEES
YFSTVKIIYT VGHSISIVAL FVAITILVAL RRLHCPRNYV HTQLFTTFIL KAGAVFLKDA
ALFHSDDTDH CSFSTVLCKV SVAASHFATM TNFSWLLAEA VYLNCLLAST SPSSRRAFWW
LVLAGWGLPV LFTGTWVSCK LAFEDIACWD LDDTSPYWWI IKGPIVLSVG VNFGLFLNII
RILVRKLEPA QGSLHTQSQY WRLSKSTLFL IPLFGIHYII FNFLPDNAGL GIRLPLELGL
GSFQGFIVAI LYCFLNQEVR TEISRKWHGH DPELLPAWRT RAKWTTPSRS AAKVLTSMC*
mutated AA sequence MVPGTPSPLL GRGKELWLES LACLPGAVKR DCTITGWSEP FPPYPVACPV PLELLAEEES
YFSTVKIIYT VGHSISIVAL FVAITILVAL RRLHCPRNYV HTQLFTTFIL KAGAVFLKDA
ALFHSDDTDH CSFSTVLCKV SVAASHFATM TNFSWLLEEA VYLNCLLAST SPSSRRAFWW
LVLAGWGLPV LFTGTWVSCK LAFEDIACWD LDDTSPYWWI IKGPIVLSVG VNFGLFLNII
RILVRKLEPA QGSLHTQSQY WRLSKSTLFL IPLFGIHYII FNFLPDNAGL GIRLPLELGL
GSFQGFIVAI LYCFLNQEVR TEISRKWHGH DPELLPAWRT RAKWTTPSRS AAKVLTSMC*
speed 0.93 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.652571025087196 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010308)
  • known disease mutation: rs15993 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31013667C>AN/A show variant in all transcripts   IGV
HGNC symbol GHRHR
Ensembl transcript ID ENST00000326139
Genbank transcript ID NM_000823
UniProt peptide Q02643
alteration type single base exchange
alteration region CDS
DNA changes c.665C>A
cDNA.711C>A
g.35384C>A
AA changes A222E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 222
frameshift no
known variant Reference ID: rs121918120
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs15993 (pathogenic for Isolated growth hormone deficiency, type 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.311
0.6710.898
(flanking)-0.7650.797
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained353800.31mu: GGCTGTTGGAAGAAG CTGT|tgga
distance from splice site 68
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      222FATMTNFSWLLAEAVYLNCLLAST
mutated  not conserved    222FATMTNFSWLLEEAVYLNCLLAS
Ptroglodytes  all identical  ENSPTRG00000019048  222FATMTNFSWLLAEAVYLTCLLAS
Mmulatta  all identical  ENSMMUG00000011764  158FATMTNFSWLLAEAVYLTCLLAS
Fcatus  not conserved  ENSFCAG00000002543  220FTTMTNFSWLLVEAVYLTCLLAS
Mmusculus  all identical  ENSMUSG00000004654  222LATMTNFSWLLAEAVYLSCLLAS
Ggallus  not conserved  ENSGALG00000005212  219YFMMTNFIWLLVEALYLNCLLLS
Trubripes  not conserved  ENSTRUG00000017747  225YCVMANFFWLLVEALYLNSLLVS
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
205227TRANSMEMHelical; Name=3; (Potential).lost
228240TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
241262TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
263280TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
281304TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
305329TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
330348TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
349361TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
362381TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
382423TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1272 / 1272
position (AA) of stopcodon in wt / mu AA sequence 424 / 424
position of stopcodon in wt / mu cDNA 1318 / 1318
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 47 / 47
chromosome 7
strand 1
last intron/exon boundary 1193
theoretical NMD boundary in CDS 1096
length of CDS 1272
coding sequence (CDS) position 665
cDNA position
(for ins/del: last normal base / first normal base)		 711
gDNA position
(for ins/del: last normal base / first normal base)		 35384
chromosomal position
(for ins/del: last normal base / first normal base)		 31013667
original gDNA sequence snippet CAACTTCAGCTGGCTGTTGGCAGAAGCCGTCTACCTGAACT
altered gDNA sequence snippet CAACTTCAGCTGGCTGTTGGAAGAAGCCGTCTACCTGAACT
original cDNA sequence snippet CAACTTCAGCTGGCTGTTGGCAGAAGCCGTCTACCTGAACT
altered cDNA sequence snippet CAACTTCAGCTGGCTGTTGGAAGAAGCCGTCTACCTGAACT
wildtype AA sequence MDRRMWGAHV FCVLSPLPTV LGHMHPECDF ITQLREDESA CLQAAEEMPN TTLGCPATWD
GLLCWPTAGS GEWVTLPCPD FFSHFSSESG AVKRDCTITG WSEPFPPYPV ACPVPLELLA
EEESYFSTVK IIYTVGHSIS IVALFVAITI LVALRRLHCP RNYVHTQLFT TFILKAGAVF
LKDAALFHSD DTDHCSFSTV LCKVSVAASH FATMTNFSWL LAEAVYLNCL LASTSPSSRR
AFWWLVLAGW GLPVLFTGTW VSCKLAFEDI ACWDLDDTSP YWWIIKGPIV LSVGVNFGLF
LNIIRILVRK LEPAQGSLHT QSQYWRLSKS TLFLIPLFGI HYIIFNFLPD NAGLGIRLPL
ELGLGSFQGF IVAILYCFLN QEVRTEISRK WHGHDPELLP AWRTRAKWTT PSRSAAKVLT
SMC*
mutated AA sequence MDRRMWGAHV FCVLSPLPTV LGHMHPECDF ITQLREDESA CLQAAEEMPN TTLGCPATWD
GLLCWPTAGS GEWVTLPCPD FFSHFSSESG AVKRDCTITG WSEPFPPYPV ACPVPLELLA
EEESYFSTVK IIYTVGHSIS IVALFVAITI LVALRRLHCP RNYVHTQLFT TFILKAGAVF
LKDAALFHSD DTDHCSFSTV LCKVSVAASH FATMTNFSWL LEEAVYLNCL LASTSPSSRR
AFWWLVLAGW GLPVLFTGTW VSCKLAFEDI ACWDLDDTSP YWWIIKGPIV LSVGVNFGLF
LNIIRILVRK LEPAQGSLHT QSQYWRLSKS TLFLIPLFGI HYIIFNFLPD NAGLGIRLPL
ELGLGSFQGF IVAILYCFLN QEVRTEISRK WHGHDPELLP AWRTRAKWTT PSRSAAKVLT
SMC*
speed 0.89 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM010308)
  • known disease mutation: rs15993 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31013667C>AN/A show variant in all transcripts   IGV
HGNC symbol GHRHR
Ensembl transcript ID ENST00000409233
Genbank transcript ID N/A
UniProt peptide Q02643
alteration type single base exchange
alteration region intron
DNA changes g.35384C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918120
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs15993 (pathogenic for Isolated growth hormone deficiency, type 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.311
0.6710.898
(flanking)-0.7650.797
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained353800.31mu: GGCTGTTGGAAGAAG CTGT|tgga
distance from splice site 919
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
23132TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
6464DISULFIDmight get lost (downstream of altered splice site)
7276STRANDmight get lost (downstream of altered splice site)
7878DISULFIDmight get lost (downstream of altered splice site)
8084HELIXmight get lost (downstream of altered splice site)
9297STRANDmight get lost (downstream of altered splice site)
9696DISULFIDmight get lost (downstream of altered splice site)
108111HELIXmight get lost (downstream of altered splice site)
112112DISULFIDmight get lost (downstream of altered splice site)
116119HELIXmight get lost (downstream of altered splice site)
133152TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
153162TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
163181TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
178178CONFLICTA -> R (in Ref. 1; AAA35890).might get lost (downstream of altered splice site)
182204TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
205227TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
228240TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
241262TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
263280TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
281304TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
305329TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
330348TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
349361TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
362381TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
382423TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 259 / 259
chromosome 7
strand 1
last intron/exon boundary 767
theoretical NMD boundary in CDS 458
length of CDS 519
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 35384
chromosomal position
(for ins/del: last normal base / first normal base)		 31013667
original gDNA sequence snippet CAACTTCAGCTGGCTGTTGGCAGAAGCCGTCTACCTGAACT
altered gDNA sequence snippet CAACTTCAGCTGGCTGTTGGAAGAAGCCGTCTACCTGAACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVPGTPSPLL GRGKELWLES LACLPGAVKR DCTITGWSEP FPPYPVACPV PLELLAEEVL
GPGRHLPLLV DHQRAHCPLG RGELWAFSQY YPHPGEETGA SSGQPPYPVS VLASLQVDTF
PDPTLWNSLH HLQLPARQCW PGHPPPPGAG TGFLPGLHCC HPLLLPQPRG ED*
mutated AA sequence N/A
speed 0.35 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM010308)
  • known disease mutation: rs15993 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31013667C>AN/A show variant in all transcripts   IGV
HGNC symbol GHRHR
Ensembl transcript ID ENST00000409316
Genbank transcript ID N/A
UniProt peptide Q02643
alteration type single base exchange
alteration region intron
DNA changes g.35384C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918120
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs15993 (pathogenic for Isolated growth hormone deficiency, type 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.311
0.6710.898
(flanking)-0.7650.797
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained353800.31mu: GGCTGTTGGAAGAAG CTGT|tgga
distance from splice site 377
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
122SIGNALPotential.might get lost (downstream of altered splice site)
23132TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
3445HELIXmight get lost (downstream of altered splice site)
4141DISULFIDmight get lost (downstream of altered splice site)
5050CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
5355STRANDmight get lost (downstream of altered splice site)
5555DISULFIDmight get lost (downstream of altered splice site)
6464DISULFIDmight get lost (downstream of altered splice site)
7276STRANDmight get lost (downstream of altered splice site)
7878DISULFIDmight get lost (downstream of altered splice site)
8084HELIXmight get lost (downstream of altered splice site)
9297STRANDmight get lost (downstream of altered splice site)
9696DISULFIDmight get lost (downstream of altered splice site)
108111HELIXmight get lost (downstream of altered splice site)
112112DISULFIDmight get lost (downstream of altered splice site)
116119HELIXmight get lost (downstream of altered splice site)
133152TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
153162TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
163181TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
178178CONFLICTA -> R (in Ref. 1; AAA35890).might get lost (downstream of altered splice site)
182204TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
205227TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
228240TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
241262TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
263280TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
281304TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
305329TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
330348TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
349361TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
362381TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
382423TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 438 / 438
chromosome 7
strand 1
last intron/exon boundary 883
theoretical NMD boundary in CDS 395
length of CDS 456
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 35384
chromosomal position
(for ins/del: last normal base / first normal base)		 31013667
original gDNA sequence snippet CAACTTCAGCTGGCTGTTGGCAGAAGCCGTCTACCTGAACT
altered gDNA sequence snippet CAACTTCAGCTGGCTGTTGGAAGAAGCCGTCTACCTGAACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MLPFSTATTL TTAASPLAAR ALHWHVGELQ TGLRGHRVLG PGRHLPLLVD HQRAHCPLGR
GELWAFSQYY PHPGEETGAS SGQPPYPVSV LASLQVDTFP DPTLWNSLHH LQLPARQCWP
GHPPPPGAGT GFLPGLHCCH PLLLPQPRGE D*
mutated AA sequence N/A
speed 1.05 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM010308)
  • known disease mutation: rs15993 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31013667C>AN/A show variant in all transcripts   IGV
HGNC symbol GHRHR
Ensembl transcript ID ENST00000337750
Genbank transcript ID N/A
UniProt peptide Q02643
alteration type single base exchange
alteration region intron
DNA changes g.35384C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918120
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs15993 (pathogenic for Isolated growth hormone deficiency, type 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010308)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.311
0.6710.898
(flanking)-0.7650.797
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained353800.31mu: GGCTGTTGGAAGAAG CTGT|tgga
distance from splice site 377
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
23132TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
6464DISULFIDmight get lost (downstream of altered splice site)
7276STRANDmight get lost (downstream of altered splice site)
7878DISULFIDmight get lost (downstream of altered splice site)
8084HELIXmight get lost (downstream of altered splice site)
9297STRANDmight get lost (downstream of altered splice site)
9696DISULFIDmight get lost (downstream of altered splice site)
108111HELIXmight get lost (downstream of altered splice site)
112112DISULFIDmight get lost (downstream of altered splice site)
116119HELIXmight get lost (downstream of altered splice site)
133152TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
153162TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
163181TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
178178CONFLICTA -> R (in Ref. 1; AAA35890).might get lost (downstream of altered splice site)
182204TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
205227TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
228240TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
241262TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
263280TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
281304TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
305329TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
330348TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
349361TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
362381TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
382423TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 259 / 259
chromosome 7
strand 1
last intron/exon boundary 828
theoretical NMD boundary in CDS 519
length of CDS 207
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 35384
chromosomal position
(for ins/del: last normal base / first normal base)		 31013667
original gDNA sequence snippet CAACTTCAGCTGGCTGTTGGCAGAAGCCGTCTACCTGAACT
altered gDNA sequence snippet CAACTTCAGCTGGCTGTTGGAAGAAGCCGTCTACCTGAACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MVPGTPSPLL GRGKELWLES LACLPGAVKR DCTITGWSEP FPPYPVACPV PLELLAEEGC
PCSSLARG*
mutated AA sequence N/A
speed 0.35 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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